James R. Lupski

Genomic disorders ten years on (2009)

Lupski, James R

Abstract It is now becoming generally accepted that a significant amount of human genetic variation is due to structural changes of the genome rather than to base-pair changes in the DNA. As for...

Increased LIS1 expression affects human and mouse brain development (2009)

Bi, Weimin, Sapir, Tamar, Shchelochkov, Oleg A., Zhang, Feng, Withers, Marjorie A., Hunter, Jill V., ...

10 pages, 7 figures.-- Supplementary information (Suppl. data, 17 pages, and suppl. movies S1-S2) available at: http://www.nature.com/ng/journal/vaop/ncurrent/suppinfo/ng.302_S1.html

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models (2009)

Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, ...

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching (2009)

Carvalho, Claudia M.B., Zhang, Feng, Liu, Pengfei, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., ...

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be...

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome (2009)

Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.

We characterized at the molecular level the genomic rearrangements in 28 unrelated patients with 9q34.3 subtelomeric deletions. Four distinct categories were delineated: terminal deletions,...

Mechanisms for human genomic rearrangements (2008)

Gu, Wenli, Zhang, Feng, Lupski, James R

Abstract Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such...

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome (2008)

Molina, Jessica, Carmona-Mora, Paulina, Chrast, Jacqueline, Krall, Paola M., Canales, César P., Lupski, James R., ...

The Potocki-Lupski syndrome (PTLS) is associated with a microduplication of 17p11.2. Clinical features include multiple congenital and neurobehavioral abnormalities and autistic features. We have...

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain (2008)

Inoue, Ken, Ohyama, Tomoko, Sakuragi, Yosuke, Yamamoto, Ryoko, Inoue, Naoko A., Yu, Li-Hua, ...

Copy number variation at the breakpoint region of isochromosome 17q (2008)

Carvalho, Claudia M.B., Lupski, James R.

Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a ∼240-kb interval located in the...

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome (2007)

Babcock, Melanie, Yatsenko, Svetlana, Hopkins, Janet, Brenton, Matthew, Cao, Qing, De Jong, Pieter, ...

Segmental duplications or low-copy repeats (LCRs) constitute ∼5% of the sequenced portion of the human genome and are associated with many human congenital anomaly disorders. The low-copy repeats...

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes (2007)

Bi, Weimin, Yan, Jiong, Shi, Xin, Yuva-Paylor, Lisa A., Antalffy, Barbara A., Goldman, Alica, ...

Smith–Magenis syndrome (SMS) is associated with an ∼3.7 Mb common deletion in 17p11.2 and characterized by its craniofacial and neurobehavioral abnormalities. The reciprocal duplication leads to...

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J (2007)

Chow, Clement Y., Zhang, Yanling, Dowling, James J., Jin, Natsuko, Adamska, Maja, Shiga, Kensuke, ...

Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle trafficking in eukaryotic cells(1). Proteins that bind specific phosphoinositides mediate interactions...

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)

Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S. Kashuk, ...

The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)

Adrian Gherman, Peter E. Chen, Tanya Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, ...

The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance between selective advantage, selective disadvantage and genetic drift. When...

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway (2007)

Bien-Willner, Gabriel A., Stankiewicz, Pawel, Lupski, James R.

SOX9 is a temporal and tissue-specific transcription factor involved in male sexual development and bone formation. Haploinsufficiency of SOX9 is known to cause campomelic dysplasia (CD). CD cases...

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12 (2007)

Babcock, Melanie, Yatsenko, Svetlana, Stankiewicz, Pawel, Lupski, James R., Morrow, Bernice E.

Low copy repeats (LCRs; segmental duplications) constitute ∼5% of the sequenced human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal...

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain (2007)

Inoue, Ken, Ohyama, Tomoko, Sakuragi, Yosuke, Yamamoto, Ryoko, Inoue, Naoko A., Li-Hua, Yu, ...

Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a complex neurocristopathy caused by SOX10 mutations. Most...

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (2006)

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., ...

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease (2006)

Lee, Jennifer A., Inoue, Ken, Cheung, Sau W., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.

Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent sub-microscopic chromosomal rearrangements, or may result in genomic...

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie- Tooth type 2 (2006)

Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, ...

Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients with...

Role of Genomic Architecture in PLP1 Duplication Causing Pelizaeus-Merzbacher Disease (2006)

Lee, Jennifer A., Inoue, Ken, Cheung, Sau W., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.

Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent submicroscopic chromosomal rearrangements, or may result in genomic...

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2 (2006)

Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, ...

Mutations in mitofusin 2 (MFN2) have been reported in Charcot–Marie–Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients...

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes (2005)

James R. Lupski, Pawel Stankiewicz

Rearrangements of our genome can be responsible for inherited as well as sporadic traits. The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic...

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle (2005)

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., ...

Retinoid dehydrogenases/reductases catalyze key oxidation–reduction reactions in the visual cycle that converts vitamin A to 11-cis retinal, the chromophore of the rod and cone photoreceptors. It...

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats (2005)

Kurotaki, Naohiro, Stankiewicz, Pawel, Wakui, Keiko, Niikawa, Norio, Lupski, James R.

Sotos syndrome (Sos) is an overgrowth disorder also characterized clinically by mental retardation, specific craniofacial features and advanced bone age. As NSD1 haploinsufficiency was determined in...

Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1) (2005)

Zhou, Tong, Lee, Jae Wan, Tatavarthi, Haritha, Lupski, James R., Valerie, Kristoffer, Povirk, Lawrence F.

Tyrosyl-DNA phosphodiesterase (TDP1) is a DNA repair enzyme that removes peptide fragments linked through tyrosine to the 3′ end of DNA, and can also remove 3′-phosphoglycolates (PGs) formed by...

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies (2005)

Wiszniewski, Wojciech, Zaremba, Charles M., Yatsenko, Alexander N., Jamrich, Milan, Wensel, Theodore G., Lewis, Richard Alan, ...

ABCA4, also called ABCR, is a retinal-specific member of the ATP-binding cassette (ABC) family that functions in photoreceptor outer segments as a flipase of all-trans retinal. Homozygous and...

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome (2005)

Bi, Weimin, Ohyama, Tomoko, Nakamura, Hisashi, Yan, Jiong, Visvanathan, Jaya, Justice, Monica J., ...

Retinoic acid induced 1 (RAI1) is among the 20 genes identified in the critical region of Smith–Magenis syndrome (SMS), a genomic disorder with multiple congenital anomalies associated with a...

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal (2004)

Lupski, James R

Abstract Homologous recombination between alleles or non-allelic paralogous sequences does not occur uniformly but is concentrated in 'hotspots' with high recombination rates. Recent studies of these...

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-patella syndrome (2004)

Midro,Alina T., Panasiuk,Barbara, Tümer,Zeynep, Stankiewicz,Pawel, Silahtaroglu,Asli, Lupski,James R., ...

The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of...

The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats. (2004)

Barbouti, Aikaterini, Stankiewicz, Pawel, Nusbaum, Chad, Cuomo, Christina, Cook, April, Höglund, Mattias, ...

Abstract is not available

Animal models for human contiguous gene syndromes and other genomic disorders (2004)

Walz,Katherina, Fonseca,Patricia, Lupski,James R.

Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage. The chromosomal rearrangements...

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-patella syndrome (2004)

Midro, Alina T., Panasiuk, Barbara, Tümer, Zeynep, Stankiewicz, Pawel, Silahtaroglu, Asli, Lupski, James R., ...

The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of...

Behavioral characterization of mouse models for Smith-Magenis Syndrome and Dup 17 (p11.2 p11.2) (2004)

Walz, Katherina, Spencer, Corinne, Kaasik, Krista, Lee, Cheng C., Lupski, James R., Paylor, Richard

Contiguous gene syndromes (CGS) refer to a group of disorders associated with chromosomal rearrangements in which the phenotype is thought to result from altered copy number of physically linked...

Implications of human genome architecture for rearrangement based disorders: the genomic basis of disease (2004)

Shaw, Christine J., Lupski, James R.

The term "genomic disorder" refers to a disease that is caused by an alteration of the genome that results in complete loss, gain, or disruption of the structural integrity of a dosage sensitive...

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome (2004)

Yan, Jiong, Keener, Victoria W., Bi, Weimin, Walz, Katherina, Bradley, Allan, Justice, Monica J., ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with del(17)(p11.2p11.2). The phenotype is variable even in patients with deletion of the same...

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease (2004)

Shaw, Christine J., Lupski, James R.

The term ‘genomic disorder’ refers to a disease that is caused by an alteration of the genome that results in complete loss, gain or disruption of the structural integrity of a dosage sensitive...

Serial segmental duplications during primate evolution result in complex human genome architecture (2004)

Stankiewicz, Pawel, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.

The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...

Behavioral characterization of mouse models for Smith-Magenis Syndrome and Dup 17 (p11.2 p11.2) (2004)

Walz, Katherina, Spencer, Corinne, Kaasik, Krista, Lee, Cheng C., Lupski, James R., Paylor, Richard

Contiguous gene syndromes (CGS) refer to a group of disorders associated with chromosomal rearrangements in which the phenotype is thought to result from altered copy number of physically linked...

Implications of human genome architecture for rearrangement based disorders: the genomic basis of disease (2004)

Shaw, Christine J., Lupski, James R.

The term "genomic disorder" refers to a disease that is caused by an alteration of the genome that results in complete loss, gain, or disruption of the structural integrity of a dosage sensitive...

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome (2004)

Yan, Jiong, Keener, Victoria W., Bi, Weimin, Walz, Katherina, Bradley, Allan, Justice, Monica J., ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with del(17)(p11.2p11.2). The phenotype is variable even in patients with deletion of the same...

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse (2002)

Yan, Jiong, Stankiewicz, Pawe, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F, ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same approximately 4...

Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development (2002)

Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael Francis, Davy, Deborah A., ...

The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...

Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development (2002)

Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael Francis, Davy, Deborah A., ...

The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse (2002)

Bi, Weimin, Yan, Jiong, Stankiewicz, Pawel, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs (2002)

Park, Sung-Sup, Stankiewicz, Pawel, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, ...

Exploring the molecular basis of Bardet-Biedl syndrome (2001)

Katsanis, Nicholas, Lupski, James R., Beales, Philip L.

Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet–Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy,...

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes (2001)

Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration (2001)

Shroyer, Noah F., Lewis, Richard Alan, N. Yatsenko, Alexander, Wensel, Theodore G., Lupski, James R.

Mutations in ABCR (ABCA4) have been reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt disease (STGD), cone–rod dystrophy and retinitis pigmentosa....

The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP (2001)

Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus (2000)

Bejjani, Bassem A., Stockton, David W., Lewis, Richard Alan, Tomey, Karim F., Dueker, David K., Jabak, Monzer, ...

Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown developmental defect(s) in the anterior chamber. Recently, we reported three distinct mutations in CYP1B1,...

Localization of mariner DNA Transposons in the Human Genome by PRINS (1999)

Reiter, Lawrence T., Liehr, Thomas, Rautenstrauss, Bernd, Robertson, Hugh M., Lupski, James R.

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies (1999)

Warner, Laura E., Svaren, John, Milbrandt, Jeffrey, Lupski, James R.

The early growth response 2 gene (EGR2) is a Cys2His2 zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based...

Regulation of the r̲p̲s̲U̲-d̲n̲a̲G̲-r̲p̲o̲D̲ macromolecular synthesis operon of E. coli K-12 / (1983)

Lupski, James R.

Typescript.

Molecular Epidemiological Analysis of the Changing Nature of a Meningococcal Outbreak following a Vaccination Campaign

Shlush, Liran I., Behar, Doron M., Zelazny, Adrian, Keller, Nathy, Lupski, James R., Beaudet, Arthur L., ...

A serogroup C meningococcal outbreak that occurred in an Israeli Arab village led to a massive vaccination campaign. During the subsequent 18 months, new cases of type B Neisseria meningitidis...

Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development

Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael F., Davy, Deborah A., ...

The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes

Katsanis, Nicholas, Worley, Kim C., Gonzalez, Guillermo, Ansley, Stephen J., Lupski, James R.

Grouping genes by virtue of their sequence similarity, functional association, or spatiotemporal distribution is an important first step in investigating function. Given the recent identification of...

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

Walz, Katherina, Caratini-Rivera, Sandra, Bi, Weimin, Fonseca, Patricia, Mansouri, Dena L., Lynch, Jennifer, ...

Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked...

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb...

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, ...

An ∼4-Mb genomic segment on chromosome 17p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients with dup(17)(p11.2p11.2) syndrome, is flanked by large,...

COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast

Yan, Jiong, Walz, Katherina, Nakamura, Hisashi, Carattini-Rivera, Sandra, Zhao, Qi, Vogel, Hannes, ...

Csn3 (Cops3) maps to the mouse chromosome 11 region syntenic to the common deletion interval for the Smith-Magenis syndrome, a contiguous gene deletion syndrome. It encodes the third subunit of an...

Localization of mariner DNA Transposons in the Human Genome by PRINS

Reiter, Lawrence T., Liehr, Thomas, Rautenstrauss, Bernd, Robertson, Hugh M., Lupski, James R.

Homologous recombination occurring among misaligned repeated sequences is a significant source of the molecular rearrangements resulting in human genetic disease. Studies of the Charcot-Marie-Tooth...

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes

Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...

Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common...

The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.

Many genomic disorders occur as a result of chromosome rearrangements involving low-copy repeats (LCRs). To better understand the molecular basis of chromosome rearrangements, including...

Two MspI RFLPs at the D17S258 locus

Franco, Brunella, Rincon-Limas, Diego, Nakamura, Yusuke, Patel, Pragna I., Lupski, James R.

Serial segmental duplications during primate evolution result in complex human genome architecture

Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.

The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...

Microbial DNA Typing by Automated Repetitive-Sequence-Based PCR

Healy, Mimi, Huong, Joe, Bittner, Traci, Lising, Maricel, Frye, Stacie, Raza, Sabeen, ...

Repetitive sequence-based PCR (rep-PCR) has been recognized as an effective method for bacterial strain typing. Recently, rep-PCR has been commercially adapted to an automated format known as the...

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

Lupski, James R

Recent studies of homologous recombination hotspots show that they do not share common sequence motifs, but they do have other features in common.

Deficiency in 3′-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

Zhou, Tong, Lee, Jae Wan, Tatavarthi, Haritha, Lupski, James R., Valerie, Kristoffer, Povirk, Lawrence F.

Tyrosyl-DNA phosphodiesterase (TDP1) is a DNA repair enzyme that removes peptide fragments linked through tyrosine to the 3′ end of DNA, and can also remove 3′-phosphoglycolates (PGs) formed by...

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

Boerkoel, Cornelius F., Takashima, Hiroshi, Stankiewicz, Pawel, Garcia, Carlos A., Leber, Steven M., Rhee-Morris, Laila, ...

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx−/− mice develop a severe demyelinating peripheral...

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

Beales, Philip L., Katsanis, Nicholas, Lewis, Richard A., Ansley, Stephen J., Elcioglu, Nursel, Raza, Jamal, ...

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical...

Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)

Lupski, James R.

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees

Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., ...

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation....

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

Lupski, James R, Stankiewicz, Pawel

Rearrangements of our genome can be responsible for inherited as well as sporadic traits. The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic...

Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants

Khajavi, Mehrdad, Inoue, Ken, Wiszniewski, Wojciech, Ohyama, Tomoko, Snipes, G. Jackson, Lupski, James R.

Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well...

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)

Walz, Katherina, Paylor, Richard, Yan, Jiong, Bi, Weimin, Lupski, James R.

Genomic disorders are conditions that result from DNA rearrangements, such as deletions or duplications. The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is...

Molecular Epidemiological Analysis of the Changing Nature of a Meningococcal Outbreak following a Vaccination Campaign

Shlush, Liran I., Behar, Doron M., Zelazny, Adrian, Keller, Nathy, Lupski, James R., Beaudet, Arthur L., ...

A serogroup C meningococcal outbreak that occurred in an Israeli Arab village led to a massive vaccination campaign. During the subsequent 18 months, new cases of type B Neisseria meningitidis...

Fliih, a Gelsolin-Related Cytoskeletal Regulator Essential for Early Mammalian Embryonic Development

Campbell, Hugh D., Fountain, Shelley, McLennan, Ian S., Berven, Leise A., Crouch, Michael F., Davy, Deborah A., ...

The Drosophila melanogaster flightless I gene is required for normal cellularization of the syncytial blastoderm. Highly conserved homologues of flightless I are present in Caenorhabditis elegans,...

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes

Katsanis, Nicholas, Worley, Kim C., Gonzalez, Guillermo, Ansley, Stephen J., Lupski, James R.

Grouping genes by virtue of their sequence similarity, functional association, or spatiotemporal distribution is an important first step in investigating function. Given the recent identification of...

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

Walz, Katherina, Caratini-Rivera, Sandra, Bi, Weimin, Fonseca, Patricia, Mansouri, Dena L., Lynch, Jennifer, ...

Contiguous gene syndromes (CGS) are a group of disorders associated with chromosomal rearrangements of which the phenotype is thought to result from altered copy numbers of physically linked...

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., ...

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb...

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, ...

An ∼4-Mb genomic segment on chromosome 17p11.2, commonly deleted in patients with the Smith-Magenis syndrome (SMS) and duplicated in patients with dup(17)(p11.2p11.2) syndrome, is flanked by large,...

COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast

Yan, Jiong, Walz, Katherina, Nakamura, Hisashi, Carattini-Rivera, Sandra, Zhao, Qi, Vogel, Hannes, ...

Csn3 (Cops3) maps to the mouse chromosome 11 region syntenic to the common deletion interval for the Smith-Magenis syndrome, a contiguous gene deletion syndrome. It encodes the third subunit of an...

Localization of mariner DNA Transposons in the Human Genome by PRINS

Reiter, Lawrence T., Liehr, Thomas, Rautenstrauss, Bernd, Robertson, Hugh M., Lupski, James R.

Homologous recombination occurring among misaligned repeated sequences is a significant source of the molecular rearrangements resulting in human genetic disease. Studies of the Charcot-Marie-Tooth...

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes

Inoue, Ken, Dewar, Ken, Katsanis, Nicholas, Reiter, Lawrence T., Lander, Eric S., Devon, Keri L., ...

Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A–REPs) represent frequent genomic rearrangements resulting in two common...

The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proximal CMT1A-REP

Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.

Many genomic disorders occur as a result of chromosome rearrangements involving low-copy repeats (LCRs). To better understand the molecular basis of chromosome rearrangements, including...

Two MspI RFLPs at the D17S258 locus

Franco, Brunella, Rincon-Limas, Diego, Nakamura, Yusuke, Patel, Pragna I., Lupski, James R.

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T. R., Yoneyama, Akira, Rosenbarker, Lisa, ...

In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for these...

Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1

Eichers, Erica R., Green, Jane S., Stockton, David W., Jackman, Christopher S., Whelan, James, McNamara, J. Arch, ...

Some isolated populations exhibit an increased prevalence of rare recessive diseases. The island of Newfoundland is a characteristic geographic isolate, settled by a small number of families...

Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture*

Lupski, James R.

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Katsanis, Nicholas, Eichers, Erica R., Ansley, Stephen J., Lewis, Richard Alan, Kayserili, Hülya, Hoskins, Bethan E., ...

Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction. BBS has been modeled historically as an...

Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2

Shaw, Christine J., Bi, Weimin, Lupski, James R.

A number of common contiguous gene syndromes have been shown to result from nonallelic homologous recombination (NAHR) within region-specific low-copy repeats (LCRs). The reciprocal duplications are...

Serial segmental duplications during primate evolution result in complex human genome architecture

Stankiewicz, Paweł, Shaw, Christine J., Withers, Marjorie, Inoue, Ken, Lupski, James R.

The human genome is particularly rich in low-copy repeats (LCRs) or segmental duplications (5%–10%), and this characteristic likely distinguishes us from lower mammals such as rodents. How and why...

Microbial DNA Typing by Automated Repetitive-Sequence-Based PCR

Healy, Mimi, Huong, Joe, Bittner, Traci, Lising, Maricel, Frye, Stacie, Raza, Sabeen, ...

Repetitive sequence-based PCR (rep-PCR) has been recognized as an effective method for bacterial strain typing. Recently, rep-PCR has been commercially adapted to an automated format known as the...

Hotspots of homologous recombination in the human genome: not all homologous sequences are equal

Lupski, James R

Recent studies of homologous recombination hotspots show that they do not share common sequence motifs, but they do have other features in common.

Deficiency in 3′-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

Zhou, Tong, Lee, Jae Wan, Tatavarthi, Haritha, Lupski, James R., Valerie, Kristoffer, Povirk, Lawrence F.

Tyrosyl-DNA phosphodiesterase (TDP1) is a DNA repair enzyme that removes peptide fragments linked through tyrosine to the 3′ end of DNA, and can also remove 3′-phosphoglycolates (PGs) formed by...

Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

Badano, José L., Ansley, Stephen J., Leitch, Carmen C., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder, the primary features of which include obesity, retinal dystrophy, polydactyly, hypogenitalism, learning difficulties, and renal...

Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements

Stankiewicz, Paweł, Shaw, Christine J., Dapper, Jason D., Wakui, Keiko, Shaffer, Lisa G., Withers, Marjorie, ...

To investigate the potential involvement of genome architecture in nonrecurrent chromosome rearrangements, we analyzed the breakpoints of eight translocations and 18 unusual-sized deletions involving...

Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

Beales, Philip L., Badano, Jose L., Ross, Alison J., Ansley, Stephen J., Hoskins, Bethan E., Kirsten, Brigitta, ...

Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1–7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7)....

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.

Smith-Magenis syndrome (SMS) is caused by an ∼4-Mb heterozygous interstitial deletion on chromosome 17p11.2 in ∼80%–90% of affected patients. Three large (∼200 kb), complex, and highly...

The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats

Barbouti, Aikaterini, Stankiewicz, Pawel, Nusbaum, Chad, Cuomo, Christina, Cook, April, Höglund, Mattias, ...

Although a great deal of information has accumulated regarding the mechanisms underlying constitutional DNA rearrangements associated with inherited disorders, virtually nothing is known about the...

Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates

Shaw, Christine J., Withers, Marjorie A., Lupski, James R.

Several homologous recombination “hotspots,” or sites of positional preference for strand exchanges, associated with recurrent deletions and duplications have been reported within large low-copy...

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Velagaleti, Gopalrao V. N., Bien-Willner, Gabriel A., Northup, Jill K., Lockhart, Lillian H., Hawkins, Judy C., Jalal, Syed M., ...

Campomelic dysplasia (CD) is a semilethal skeletal malformation syndrome with or without XY sex reversal. In addition to the multiple mutations found within the sex-determining region Y–related...

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

Boerkoel, Cornelius F., Takashima, Hiroshi, Stankiewicz, Pawel, Garcia, Carlos A., Leber, Steven M., Rhee-Morris, Laila, ...

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx−/− mice develop a severe demyelinating peripheral...

Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero–Truncating Mutants

Khajavi, Mehrdad, Inoue, Ken, Wiszniewski, Wojciech, Ohyama, Tomoko, Snipes, G. Jackson, Lupski, James R.

Mutations in MPZ, the gene encoding myelin protein zero (MPZ), the major protein constituent of peripheral myelin, can cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well...

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

Beales, Philip L., Katsanis, Nicholas, Lewis, Richard A., Ansley, Stephen J., Elcioglu, Nursel, Raza, Jamal, ...

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical...

Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)

Lupski, James R.

Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees

Katsanis, Nicholas, Lewis, Richard A., Stockton, David W., Mai, Phuong M. T., Baird, Lisa, Beales, Philip L., ...

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly, hypogenitalism, and mental retardation....

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

Lupski, James R, Stankiewicz, Pawel

Rearrangements of our genome can be responsible for inherited as well as sporadic traits. The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 (17p) reveal nonallelic...

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)

Walz, Katherina, Paylor, Richard, Yan, Jiong, Bi, Weimin, Lupski, James R.

Genomic disorders are conditions that result from DNA rearrangements, such as deletions or duplications. The identification of the dosage-sensitive gene(s) within the rearranged genomic interval is...

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

Lu, Xinyan, Shaw, Chad A., Patel, Ankita, Li, Jiangzhen, Cooper, M. Lance, Wells, William R., ...

A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination

Lindsay, Sarah J., Khajavi, Mehrdad, Lupski, James R., Hurles, Matthew E.

Insights into the origins of structural variation and the mutational mechanisms underlying genomic disorders would be greatly improved by a genomewide map of hotspots of nonallelic homologous...

Reply to Boylan

Wise, Carol A., Garcia, Carlos A., Patel, Pragna I., Lupski, James R.

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

Gherman, Adrian, Chen, Peter E, Teslovich, Tanya M, Stankiewicz, Pawel, Withers, Marjorie, Kashuk, Carl S, ...

The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...

Penetrance of Craniofacial Anomalies in Mouse Models of Smith-Magenis Syndrome Is Modified by Genomic Sequence Surrounding Rai1: Not All Null Alleles Are Alike

Yan, Jiong, Bi, Weimin, Lupski, James R.

Craniofacial abnormality is one of the major clinical manifestations of Smith-Magenis syndrome (SMS). Previous analyses in a mixed genetic background of several SMS mouse models—including...

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

Babcock, Melanie, Yatsenko, Svetlana, Stankiewicz, Pawel, Lupski, James R., Morrow, Bernice E.

Low copy repeats (LCRs; segmental duplications) constitute ∼5% of the sequenced human genome. Nonallelic homologous recombination events between LCRs during meiosis can lead to chromosomal...

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M. B., Eifert, Anna, Friedman, Ellen M., ...

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal...

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

Lu, Weining, Van Eerde, Albertien M., Fan, Xueping, Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Ferguson, Heather, ...

Congenital anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR). VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde...

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Ben-Shachar, Shay, Ou, Zhishuo, Shaw, Chad A., Belmont, John W., Patel, Millan S., Hummel, Marybeth, ...

Microdeletions within chromosome 22q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of patients with DGS/VCFS have either a common...

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome

Tobin, Jonathan L., Di Franco, Matt, Eichers, Erica, May-Simera, Helen, Garcia, Monica, Yan, Jiong, ...

Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. In the pleiotropic Bardet–Biedl syndrome (BBS), a primary ciliopathy with...

Mechanisms for human genomic rearrangements

Gu, Wenli, Zhang, Feng, Lupski, James R

Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes...

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

Hastings, P. J., Ira, Grzegorz, Lupski, James R.

Chromosome structural changes with nonrecurrent endpoints associated with genomic disorders offer windows into the mechanism of origin of copy number variation (CNV). A recent report of nonrecurrent...

Allan Award Introduction: Arthur L. Beaudet

Lupski, James R.

Copy number variation at the breakpoint region of isochromosome 17q

Carvalho, Claudia M.B., Lupski, James R.

Isochromosome 17q, or i(17q), is one of the most frequent nonrandom changes occurring in human neoplasia. Most of the i(17q) breakpoints cluster within a ∼240-kb interval located in the...

Genomic disorders ten years on

Lupski, James R

It is now becoming generally accepted that a significant amount of human genetic variation is due to structural changes of the genome rather than to base-pair changes in the DNA. As for base-pair...

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Wang, Hui, Den Hollander, Anneke I., Moayedi, Yalda, Abulimiti, Abuduaini, Li, Yumei, Collin, Rob W.J., ...

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed...