Kawamoto, Kensaku, Lobach, David F, Willard, Huntington F, Ginsburg, Geoffrey S
Abstract Background In recent years, the completion of the Human Genome Project and other rapid advances in genomics have led to increasing anticipation of an era of genomic and personalized...
McInnes, Roderick R., Willard, Huntington F., Hamosh, Ada
Traducción de: Thompson & Thompson genetics in medicine / 7th. ed.
Horvath, Julie E., Weisrock, David W., Embry, Stephanie L., Fiorentino, Isabella, Balhoff, James P., Kappeler, Peter, ...
Lemurs and the other strepsirrhine primates are of great interest to the primate genomics community due to their phylogenetic placement as the sister lineage to all other primates. Previous attempts...
Evidence of Influence of Genomic DNA Sequence on Human X Chromosome Inactivation (2006)
Zhong Wang, Huntington F. Willard, Sayan Mukherjee, Terrence S. Furey
A significant number of human X-linked genes escape X chromosome inactivation and are thus expressed from both the active and inactive X chromosomes. The basis for escape from inactivation and the...
Evidence of Influence of Genomic DNA Sequence on Human X Chromosome Inactivation (2006)
Zhong Wang, Huntington F Willard, Sayan Muhkerjee, Terrence Furey
A significant number of human X-linked genes escape X chromosome inactivation and are thus expressed from both the active and inactive X chromosomes. The basis for escape from inactivation and the...
Chadwick, Lisa Helbling, Pertz, Lisa M., Broman, Karl W., Bartolomei, Marisa S., Willard, Huntington F.
In early mammalian development, one of the two X chromosomes is silenced in each female cell as a result of X chromosome inactivation, the mammalian dosage compensation mechanism. In the mouse...
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. (2006)
Amos-Landgraf, James M., Cottle, Amy, Plenge, Robert M., Friez, Mike, Schwartz, Charles E., Longshore, John, ...
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome...
Chromosome-wide, allele-specific analysis of the histone code on the human X chromosome (2006)
Valley, Cory M., Pertz, Lisa M., Balakumaran, Bala S., Willard, Huntington F.
Variation in the composition of chromatin has been proposed to generate a ‘histone code’ that epigenetically regulates gene expression in a variety of eukaryotic systems. As a result of the...
Chromosome-wide, Allele-specific Analysis of the Histone Code on the Human X Chromosome (2006)
Valley, Cory M., Pertz, Lisa M., Balakumaran, Bala S., Willard, Huntington F.
Variation in the composition of chromatin has been proposed to generate a ‘histone code’ that epigenetically regulates gene expression in a variety of eukaryotic systems. As a result of the...
The evolutionary dynamics of {alpha}-satellite (2006)
Rudd, M. Katharine, Wray, Gregory A., Willard, Huntington F.
α-Satellite is a family of tandemly repeated sequences found at all normal human centromeres. In addition to its significance for understanding centromere function, α-satellite is also a model for...
Efficient assembly of de novohuman artificial chromosomes from large genomic loci (2005)
Basu, Joydeep, Compitello, George, Stromberg, Gregory, Willard, Huntington F, Van Bokkelen, Gil
Abstract Background Human Artificial Chromosomes (HACs) are potentially useful vectors for gene transfer studies and for functional annotation of the genome because of their suitability for cloning,...
Progressive proximal expansion of the primate X chromosome centromere. (2005)
Schueler, Mary G., Dunn, John M., Bird, Christine P., Ross, Mark T., Viggiano, Luigi, ...
Previous studies of the pericentromeric region of the human X chromosome short arm (Xp) revealed an age gradient from ancient DNA that contains expressed genes to recent human-specific DNA at the...
The evolutionary dynamics of {alpha}-satellite (2005)
Rudd, M. Katharine, Wray, Gregory A., Willard, Huntington F.
α-satellite is a family of tandemly repeated sequences found at all normal human centromeres. In addition to its significance for understanding centromere function, α-satellite is also a model for...
Basu, Joydeep, Stromberg, Gregory, Compitello, George, Willard, Huntington F., Bokkelen, Gil Van
Efficient construction of BAC-based human artificial chromosomes (HACs) requires optimization of each key functional unit as well as development of techniques for the rapid and reliable manipulation...
Grimes, Brenda R, Babcock, Jennifer, Rudd, M Katharine, Chadwick, Brian, Willard, Huntington F
Abstract Background Human centromere regions are characterized by the presence of alpha-satellite DNA, replication late in S phase and a heterochromatic appearance. Recent models propose that the...
Genética en medicina / Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Williard (2004)
McInnes, Roderick R., Willard, Huntington F.
Traducción de: Thompson & Thompson genetics in medicine
Grimes, Brenda R, Babcock, Jennifer, Rudd, M Katharine, Chadwick, Brian, Willard, Huntington F
BACKGROUND: Human centromere regions are characterized by the presence of alpha-satellite DNA, replication late in S phase and a heterochromatic appearance. Recent models propose that the centromere...
Rudd, M. Katharine, Mays, Robert W., Schwartz, Stuart, Willard, Huntington F.
Human artificial chromosomes have been used to model requirements for human chromosome segregation and to explore the nature of sequences competent for centromere function. Normal human centromeres...
Chadwick, Brian P., Willard, Huntington F.
The Barr body has long been recognized as the cytological manifestation of the inactive X chromosome (Xi) in interphase nuclei. Despite being known for over 50 years, relatively few components of the...
Chadwick, Brian P., Willard, Huntington F.
The Barr body has long been recognized as the cytological manifestation of the inactive X chromosome (Xi) in interphase nuclei. Despite being known for over 50 years, relatively few components of the...
Chadwick, Brian P., Willard, Huntington F.
The Barr body has long been recognized as the cytological manifestation of the inactive X chromosome (Xi) in interphase nuclei. Despite being known for over 50 years, relatively few components of the...
Hall, Lisa L., Byron, Meg, Sakai, Kosuke, Carrel, Laura, Willard, Huntington F., Lawrence, Jeanne B.
It has been believed that XIST RNA requires a discrete window in early development to initiate the series of chromatin-remodeling events that form the heterochromatic inactive X chromosome. Here we...
Artificial mammalian chromosome (2002)
Harrington, John J., Van Bokkelen, Gil B., Willard, Huntington F.
Field of the invention: The invention relates to the field of gene expression and gene therapy, and to novel vectors for these uses. In particular, the invention relates to the development and use of...
Artificial mammalian chromosome (2002)
Harrington, John J., Van Bokkelen, Gil B., Willard, Huntington F.
Field of the invention: The invention relates to the field of gene expression and gene therapy, and to novel vectors for these uses. In particular, the invention relates to the development and use of...
Hall, Lisa L., Byron, Meg, Sakai, Kosuke, Carrel, Laura, Willard, Huntington F., Lawrence, Jeanne B.
It has been believed that XIST RNA requires a discrete window in early development to initiate the series of chromatin-remodeling events that form the heterochromatic inactive X chromosome. Here we...
Plenge, Robert M., Stevenson, Roger A., Lubs, Herbert A., Schwartz, Charles E., Willard, Huntington F.
Some deleterious X-linked mutations may result in a growth disadvantage for those cells in which the mutation, when on the active X chromosome, affects cell proliferation or viability. To explore the...
Cell cycle-dependent localization of macroH2A in chromatin of the inactive X chromosome. (2002)
Chadwick, Brian P., Willard, Huntington F.
One of several features acquired by chromatin of the inactive X chromosome (Xi) is enrichment for the core histone H2A variant macroH2A within a distinct nuclear structure referred to as a...
Chadwick, Brian P., Valley, Cory M., Willard, Huntington F.
Chromatin on the inactive X chromosome (Xi) of female mammals is enriched for the histone variant macroH2A that can be detected at interphase as a distinct nuclear structure referred to as a macro...
Chadwick, Brian P., Willard, Huntington F.
Chromatin on the mammalian inactive X chromosome differs in a number of ways from that on the active X. One protein, macroH2A, whose amino terminus is closely related to histone H2A, is enriched on...
Chadwick, Brian P., Willard, Huntington F.
MacroH2A1 is an unusual variant of the core histone H2A which is enriched in chromatin on the inactive X chromosome of female mammals. The N-terminal third of the protein shares 65% amino acid...
Chadwick, Brian P., Valley, Cory M., Willard, Huntington F.
Chromatin on the inactive X chromosome (Xi) of female mammals is enriched for the histone variant macroH2A that can be detected at interphase as a distinct nuclear structure referred to as a macro...
Method for stably cloning large repeating DNA sequences (1999)
Harrington, John J., Van Bokkelen, Gil B., Willard, Huntington F.
Field of the invention: This invention relates to the field of gene therapy and gene therapy vector technology. It relates to the development and use of synthetic human chromosomes, or synthetic...
Method for stably cloning large repeating DNA sequences (1999)
Harrington, John J., Van Bokkelen, Gil B., Willard, Huntington F.
Field of the invention: This invention relates to the field of gene therapy and gene therapy vector technology. It relates to the development and use of synthetic human chromosomes, or synthetic...
A first-generation X-inactivation profile of the human X chromosome. (1999)
Carrel, Laura, Cottle, Amy A., Goglin, Karrie C., Willard, Huntington F.
In females, most genes on the X chromosome are generally assumed to be transcriptionally silenced on the inactive X as a result of X inactivation. However, particularly in humans, an increasing...
Carrel, Laura, Willard, Huntington F.
In mammalian females, most genes on one X chromosome are transcriptionally silenced as a result of X chromosome inactivation. Whereas it is well established that some X-linked genes "escape" X...
Miller, Andrew P., Willard, Huntington F.
A number of genes have been identified that escape mammalian X chromosome inactivation and are expressed from both active and inactive X chromosomes. The basis for escape from inactivation is unknown...
Method for stably cloning large repeating units of DNA (1997)
Van Bokkelen, Gil B., Harrington, John J., Willard, Huntington F.
Field of the invention: This invention relates to the field of gene therapy and gene therapy vector technology. It also relates to the development and practical use of synthetic human chromosomes, or...
Method for stably cloning large repeating units of DNA (1997)
Van Bokkelen, Gil B., Harrington, John J., Willard, Huntington F.
Field of the invention: This invention relates to the field of gene therapy and gene therapy vector technology. It also relates to the development and practical use of synthetic human chromosomes, or...
Carrel, Laura, Clemson, Christine Moulton, Dunn, John M., Miller, Andrew P., Hunt, Patricia A., Lawrence, Jeanne B., ...
Previously reported data on the X inactivation status of the ubiquitin activating enzyme E1 (UBE1) gene have been contradictory, and the issue has remained unsettled. Here we present three lines of...
Clemson, Christine Moulton, McNeil, John A., Willard, Huntington F., Lawrence, Jeanne B.
The XIST gene is implicated in X chromosome inactivation, yet the RNA contains no apparent open reading frame. An accumulation of XIST RNA is observed near its site of transcription, the inactive X...
Genética en médicina / Margaret W. Thompson, Roderick R. McInnes, Huntington F. Willard (1996)
McInnes, Roderick R., Willard, Huntington F.
Traducción de: Genetics in medicine
Miller, Andrew P., Gustashaw, Karen, Wolff, Daynna J., Rider, Sue H., Monaco, Anthony P., Eble, Brian, ...
In order to study the distribution of genes that escape X chromosome inactivation, a high density yeast artificial chromosome (YAC) contig and STS map spanning approximately 6 Mb has been constructed...
The DXS423E gene in Xp11.21 escapes X chromosome inactivation (1995)
Brown, Carolyn J., Miller, Andrew P., Carrel, Laura, Rupert, Jim L., Davies, Kay E., Willard, Huntington F.
The DXS423E gene has been localized to Xp11.21 and is expressed in somatic cell hybrids retaining either the human active or inactive X chromosome, demonstrating that DXS423E escapes X chromosome...
Sultana, Razla, Adler, David A., Edelhoff, Susanne, Carrel, Laura, Lee, Kwang Ho, Chapman, Verne C., ...
The mouse homolog of the human DXS423E (SB1.8) gene has been isolated by screening a mouse cDNA library. Like its human counterpart, the mouse Sb1.8 gene is X-linked, as shown by Southern blot...
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2 (1994)
Lafrenière, Ronald G., Carrel, Laura, Willard, Huntington F.
To study the regulation and chromosomal basis of X chromosome inactivation, we have physically characterized the region in Xq13.2 known to contain the X inactivation center (XIC), a locus required in...
Grelg, Gillian M., Sharp, Cecll B., Carrel, Laura, Willard, Huntington F.
Two highly similar zinc finger genes, ZXDA (Zinc finger, X-linked, Duplicated) and ZXDB, have been isolated and characterized. Both map to the proximal short arm region of the human X chromosome,...
Mahtani, Melanie M., Willard, Huntington F.
We report a high rate of new mutation at a short tandem repeat sequence polymorphism (STR, microsatellite) at locus DXS981 on the proximal long arm of the human X chromosome. Among individuals of the...
Evolutionary conservation of possible functional domains of the human and murine XIST genes (1993)
Hendrich, Brian D., Brown, Carolyn J., Willard, Huntington F.
The human XIST gene, a candidate for a role in X chromosome inactivation, has recently been cloned and sequenced, yielding a 17 kb cDNA with no apparent significant, conserved open reading frame. In...
Lepplg, Kathleen A., Brown, Carolyn J., Bressler, Steven L., Gustashaw, Karen, Pagon, Roberta A., Willard, Huntington F., ...
A female patient with primary amenorrhea, Immature secondary sexual characteristics, and tall stature was found to have a normal X chromosome and a rearranged X [rea(X)] chromosome that resembled an...
Puck, Jennifer M., Deschenes, Suzanne M., Porter, Joanne C., Dutra, Amalla S., Brown, Carolyn J., Willard, Huntington F., ...
The gene encoding the γ chain of the lymphocyte interleukin-2 receptor has been cloned and shown to be required to associate with the β chain in order for IL-2 internalization and cell activation...
Lafrenlère, Ronald G., Brown, Carolyn J., Rider, Sue, Chelly, Jamel, Taillon-Miller, Patricia, Chinault, A.Craig, ...
X chromosome inactivation is a mechanism of dosage compensation that regulates the expression of mammalian X-linked genes between XY males and XX females. This phenomenon Is cis-acting, clonally...
Brown, Carolyn J., Hendrich, Brian D., Rupert, Jim L., Lafreniere, Ronald G., Xing, Yigong P., Lawrence, Jeanne B., ...
X chromosome inactivation in mammalian females results in the cis-limited transcriptional inactivity of most of the genes on one X chromosome. The XIST gene is unique among X-linked genes in being...
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1 (1992)
Corcos, Isabel A., Lafreniere, Ronald G., Begy, Catherine R., Loch-Caruso, Rita, Willard, Huntington F., Glover, Thomas W.
Connexins are the peptide subunits of gap junctions that interconnect cells to allow the direct, intercellular transfer of small molecules. Recently, the human connexin32 gene (locus designation...
Cotter, Philip D., Willard, Huntington F., Gorski, Jerome L., Bishop, David F.
The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding [delta]-aminolevulinate synthase have recently been mapped to chromosomes Xq21.1-->q21 and 3p21, respectively. The...
Warburton, Peter E., Willard, Huntington F.
Tandemly repeated DNA can comprise several percent of total genomic DNA in complex organisms and, in some instances, may play a role in chromosome structure or function. Alpha satellite DNA is the...
Kirchgessner, Cordula U., Trofatter, James A., Mahtani, Melanie M., Willard, Huntington F., DeGennaro, Louis J.
A compound (AC)n repeat located 1,000 bp downstream from the human synapsin I gene and within the last intron of the A-raf-1 gene has been identified. DNA data-base comparisons of the sequences...
McInnes, Roderick R., Willard, Huntington F.
Incluye bibliografía e índice
Wevrick, Rachel, Willard, Huntington F.
A long-range physical map of the centromeric region of human chromosome 7 has been constructed in order to define the region containing sequences with potential involvement in centromere function....
Norum, Robert A., Lafreniere, Ronald G., O'Neal, Lawrence W., Nikolai, Thomas F., Delaney, J. P., Sisson, James C., ...
The syndrome of multiple endocrine neoplasia type 2B (MEN 2B) resembles that of MEN 2A in that both include medullary carcinoma of the thyroid, pheochromocytoma, and autosomal dominant inheritance,...
X chromosome inactivation of the human TIMP gene (1990)
Brown, Carolyn J., FIenniken, Ann M., Williams, Bryan R.G., Willard, Huntington F.
X chromosome inactivation results in the cis-limited inactivation of most, but not all, genes on one of the two X chromosomes in mammalian females. The molecular basis for inactivation is unknown. In...
Waye, John S., Willard, Huntington F.
The human alpha satellite DNA family is composed of diverse, tandemly reiterated monomer units of −171 basepairs localized to the centromeric region of each chromosome. These sequences are...
Waye, John S., Willard, Huntington F.
The human alpha satellite DNA family is organized into chromosome-specific subsets characterized by distinct higher-order repeats based an a {small tilde}171 basepair monomer unit. On human...
Waye, John S., Willard, Huntington F.
The pericentromeric region of the human X chromosome is characterized by a tandemly repeated family of 2.0 kilobasepair (kb) DNA fragments, initially revealed by cleavage of human DNA with the...
Isolation and characterization of a major tandem repeat family from the human X chromosome (1983)
Willard, Huntington F., Smith, Kirby D., Sutherland, Joanne
We report the Identification and characterization of a family of repeated restriction fragments whose molecular organization is apparently specific to the human X chromosome. This fragment,...
Schmeckpeper, Barbara J., Willard, Huntington F., Smith, Kirby D.
Several recombinants were identified and purified from a cloned library of human DNA by virtue of their homology to DNA from a mouse-human hybrid cell line containing a single human chromosome, the...
Miller, Andrew P., Willard, Huntington F.
A number of genes have been identified that escape mammalian X chromosome inactivation and are expressed from both active and inactive X chromosomes. The basis for escape from inactivation is unknown...
Carrel, Laura, Willard, Huntington F.
In mammalian females, most genes on one X chromosome are transcriptionally silenced as a result of X chromosome inactivation. Whereas it is well established that some X-linked genes “escape” X...
A first-generation X-inactivation profile of the human X chromosome
Carrel, Laura, Cottle, Amy A., Goglin, Karrie C., Willard, Huntington F.
In females, most genes on the X chromosome are generally assumed to be transcriptionally silenced on the inactive X as a result of X inactivation. However, particularly in humans, an increasing...
Chadwick, Brian P., Valley, Cory M., Willard, Huntington F.
Chromatin on the inactive X chromosome (Xi) of female mammals is enriched for the histone variant macroH2A that can be detected at interphase as a distinct nuclear structure referred to as a macro...
Hall, Lisa L., Byron, Meg, Sakai, Kosuke, Carrel, Laura, Willard, Huntington F., Lawrence, Jeanne B.
It has been believed that XIST RNA requires a discrete window in early development to initiate the series of chromatin-remodeling events that form the heterochromatic inactive X chromosome. Here we...
Rudd, M. Katharine, Mays, Robert W., Schwartz, Stuart, Willard, Huntington F.
Human artificial chromosomes have been used to model requirements for human chromosome segregation and to explore the nature of sequences competent for centromere function. Normal human centromeres...
Willard, Huntington F., Rosenberg, Leon E.
We have measured and characterized methylmalonyl coenzyme A (CoA) mutase activity in extracts of cultured human fibroblasts from 23 patients with inherited deficiency of the mutase apoenzyme and from...
Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts
Mellman, Ira, Willard, Huntington F., Rosenberg, Leon E.
We have studied the intracellular binding of radioactive cobalamin by normal cultured human fibroblasts grown in medium containing [57Co]-cobalamin. We have also assessed the significance of defects...
Multiple spatially distinct types of facultative heterochromatin on the human inactive X chromosome
Chadwick, Brian P., Willard, Huntington F.
Heterochromatin is defined classically by condensation throughout the cell cycle, replication in late S phase and gene inactivity. Facultative heterochromatin is of particular interest, because its...
Assembly and characterization of heterochromatin and euchromatin on human artificial chromosomes
Grimes, Brenda R, Babcock, Jennifer, Rudd, M Katharine, Chadwick, Brian, Willard, Huntington F
An assay of the formation of heterochromatin and euchromatin on de novo human artificial chromosomes containing alpha satellite DNA revealed that only a small amount of heterochromatin may be...
Basu, Joydeep, Stromberg, Gregory, Compitello, George, Willard, Huntington F., Bokkelen, Gil Van
Efficient construction of BAC-based human artificial chromosomes (HACs) requires optimization of each key functional unit as well as development of techniques for the rapid and reliable manipulation...
Progressive proximal expansion of the primate X chromosome centromere
Schueler, Mary G., Dunn, John M., Bird, Christine P., Ross, Mark T., Viggiano, Luigi, Rocchi, Mariano, ...
Previous studies of the pericentromeric region of the human X chromosome short arm (Xp) revealed an age gradient from ancient DNA that contains expressed genes to recent human-specific DNA at the...
Efficient assembly of de novo human artificial chromosomes from large genomic loci
Basu, Joydeep, Compitello, George, Stromberg, Gregory, Willard, Huntington F, Van Bokkelen, Gil
The evolutionary dynamics of α-satellite
Rudd, M. Katharine, Wray, Gregory A., Willard, Huntington F.
α-Satellite is a family of tandemly repeated sequences found at all normal human centromeres. In addition to its significance for understanding centromere function, α-satellite is also a model for...
An N-ethyl-N-nitrosourea mutagenesis screen for epigenetic mutations in the mouse.
Percec, Ivona, Thorvaldsen, Joanne L, Plenge, Robert M, Krapp, Christopher J, Nadeau, Joseph H, Willard, Huntington F, ...
The mammalian epigenetic phenomena of X inactivation and genomic imprinting are incompletely understood. X inactivation equalizes X-linked expression between males and females by silencing genes on...
Evidence of Influence of Genomic DNA Sequence on Human X Chromosome Inactivation
Wang, Zhong, Willard, Huntington F, Mukherjee, Sayan, Furey, Terrence S
A significant number of human X-linked genes escape X chromosome inactivation and are thus expressed from both the active and inactive X chromosomes. The basis for escape from inactivation and the...
Genetic Control of X Chromosome Inactivation in Mice: Definition of the Xce Candidate Interval
Chadwick, Lisa Helbling, Pertz, Lisa M., Broman, Karl W., Bartolomei, Marisa S., Willard, Huntington F.
In early mammalian development, one of the two X chromosomes is silenced in each female cell as a result of X chromosome inactivation, the mammalian dosage compensation mechanism. In the mouse...
MacKenzie, Alex E., Korneluk, Robert G., Zorzato, Francesco, Fujii, Junichi, Phillips, Michael, Iles, David, ...
The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene...
Miller, Andrew P., Willard, Huntington F.
A number of genes have been identified that escape mammalian X chromosome inactivation and are expressed from both active and inactive X chromosomes. The basis for escape from inactivation is unknown...
Carrel, Laura, Willard, Huntington F.
In mammalian females, most genes on one X chromosome are transcriptionally silenced as a result of X chromosome inactivation. Whereas it is well established that some X-linked genes “escape” X...
A first-generation X-inactivation profile of the human X chromosome
Carrel, Laura, Cottle, Amy A., Goglin, Karrie C., Willard, Huntington F.
In females, most genes on the X chromosome are generally assumed to be transcriptionally silenced on the inactive X as a result of X inactivation. However, particularly in humans, an increasing...
Chadwick, Brian P., Valley, Cory M., Willard, Huntington F.
Chromatin on the inactive X chromosome (Xi) of female mammals is enriched for the histone variant macroH2A that can be detected at interphase as a distinct nuclear structure referred to as a macro...
Hall, Lisa L., Byron, Meg, Sakai, Kosuke, Carrel, Laura, Willard, Huntington F., Lawrence, Jeanne B.
It has been believed that XIST RNA requires a discrete window in early development to initiate the series of chromatin-remodeling events that form the heterochromatic inactive X chromosome. Here we...
Rudd, M. Katharine, Mays, Robert W., Schwartz, Stuart, Willard, Huntington F.
Human artificial chromosomes have been used to model requirements for human chromosome segregation and to explore the nature of sequences competent for centromere function. Normal human centromeres...
Willard, Huntington F., Rosenberg, Leon E.
We have measured and characterized methylmalonyl coenzyme A (CoA) mutase activity in extracts of cultured human fibroblasts from 23 patients with inherited deficiency of the mutase apoenzyme and from...
Cobalamin Binding and Cobalamin-Dependent Enzyme Activity in Normal and Mutant Human Fibroblasts
Mellman, Ira, Willard, Huntington F., Rosenberg, Leon E.
We have studied the intracellular binding of radioactive cobalamin by normal cultured human fibroblasts grown in medium containing [57Co]-cobalamin. We have also assessed the significance of defects...
Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders
Plenge, Robert M., Stevenson, Roger A., Lubs, Herbert A., Schwartz, Charles E., Willard, Huntington F.
Some deleterious X-linked mutations may result in a growth disadvantage for those cells in which the mutation, when on the active X chromosome, affects cell proliferation or viability. To explore the...
Multiple spatially distinct types of facultative heterochromatin on the human inactive X chromosome
Chadwick, Brian P., Willard, Huntington F.
Heterochromatin is defined classically by condensation throughout the cell cycle, replication in late S phase and gene inactivity. Facultative heterochromatin is of particular interest, because its...
Assembly and characterization of heterochromatin and euchromatin on human artificial chromosomes
Grimes, Brenda R, Babcock, Jennifer, Rudd, M Katharine, Chadwick, Brian, Willard, Huntington F
An assay of the formation of heterochromatin and euchromatin on de novo human artificial chromosomes containing alpha satellite DNA revealed that only a small amount of heterochromatin may be...
Basu, Joydeep, Stromberg, Gregory, Compitello, George, Willard, Huntington F., Bokkelen, Gil Van
Efficient construction of BAC-based human artificial chromosomes (HACs) requires optimization of each key functional unit as well as development of techniques for the rapid and reliable manipulation...
Progressive proximal expansion of the primate X chromosome centromere
Schueler, Mary G., Dunn, John M., Bird, Christine P., Ross, Mark T., Viggiano, Luigi, Rocchi, Mariano, ...
Previous studies of the pericentromeric region of the human X chromosome short arm (Xp) revealed an age gradient from ancient DNA that contains expressed genes to recent human-specific DNA at the...
Efficient assembly of de novo human artificial chromosomes from large genomic loci
Basu, Joydeep, Compitello, George, Stromberg, Gregory, Willard, Huntington F, Van Bokkelen, Gil
The evolutionary dynamics of α-satellite
Rudd, M. Katharine, Wray, Gregory A., Willard, Huntington F.
α-Satellite is a family of tandemly repeated sequences found at all normal human centromeres. In addition to its significance for understanding centromere function, α-satellite is also a model for...
An N-ethyl-N-nitrosourea mutagenesis screen for epigenetic mutations in the mouse.
Percec, Ivona, Thorvaldsen, Joanne L, Plenge, Robert M, Krapp, Christopher J, Nadeau, Joseph H, Willard, Huntington F, ...
The mammalian epigenetic phenomena of X inactivation and genomic imprinting are incompletely understood. X inactivation equalizes X-linked expression between males and females by silencing genes on...
Evidence of Influence of Genomic DNA Sequence on Human X Chromosome Inactivation
Wang, Zhong, Willard, Huntington F, Mukherjee, Sayan, Furey, Terrence S
A significant number of human X-linked genes escape X chromosome inactivation and are thus expressed from both the active and inactive X chromosomes. The basis for escape from inactivation and the...
Genetic Control of X Chromosome Inactivation in Mice: Definition of the Xce Candidate Interval
Chadwick, Lisa Helbling, Pertz, Lisa M., Broman, Karl W., Bartolomei, Marisa S., Willard, Huntington F.
In early mammalian development, one of the two X chromosomes is silenced in each female cell as a result of X chromosome inactivation, the mammalian dosage compensation mechanism. In the mouse...
MacKenzie, Alex E., Korneluk, Robert G., Zorzato, Francesco, Fujii, Junichi, Phillips, Michael, Iles, David, ...
The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene...
Genetic analysis of eight loci tightly linked to neurofibromatosis 1
Stephens, Karen, Green, Philip, Riccardi, Vincent M., Ng, Siu, Rising, Marcia, Barker, David, ...
The genetic locus for neurofibromatosis 1 (NF1) has recently been mapped to the pericentromeric region of chromosome 17. We have genotyped eight previously identified RFLP probes on 50 NF1 families...
X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females
Amos-Landgraf, James M., Cottle, Amy, Plenge, Robert M., Friez, Mike, Schwartz, Charles E., Longshore, John, ...
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome...
Genomic medicine: genetic variation and its impact on the future of health care
Willard, Huntington F, Angrist, Misha, Ginsburg, Geoffrey S
Advances in genome technology and other fruits of the Human Genome Project are playing a growing role in the delivery of health care. With the development of new technologies and opportunities for...
An RNA Polymerase III-Dependent Heterochromatin Barrier at Fission Yeast Centromere 1
Scott, Kristin C., White, Caroline V., Willard, Huntington F.
Heterochromatin formation involves the nucleation and spreading of structural and epigenetic features along the chromatin fiber. Chromatin barriers and associated proteins counteract the spreading of...
Cell cycle–dependent localization of macroH2A in chromatin of the inactive X chromosome
Chadwick, Brian P., Willard, Huntington F.
One of several features acquired by chromatin of the inactive X chromosome (Xi) is enrichment for the core histone H2A variant macroH2A within a distinct nuclear structure referred to as a...
Chadwick, Brian P., Willard, Huntington F.
Chromatin on the mammalian inactive X chromosome differs in a number of ways from that on the active X. One protein, macroH2A, whose amino terminus is closely related to histone H2A, is enriched on...
Horvath, Julie E., Weisrock, David W., Embry, Stephanie L., Fiorentino, Isabella, Balhoff, James P., Kappeler, Peter, ...
Lemurs and the other strepsirrhine primates are of great interest to the primate genomics community due to their phylogenetic placement as the sister lineage to all other primates. Previous attempts...
The Impact of Local Genome Sequence on Defining Heterochromatin Domains
Wheeler, Bayly S., Blau, Jared A., Willard, Huntington F., Scott, Kristin C.
Characterizing how genomic sequence interacts with trans-acting regulatory factors to implement a program of gene expression in eukaryotic organisms is critical to understanding genome function. One...