Dong, S, Leung, KKH, Pelling, AL, Lee, PYT, Tang, ASP, Heng, HHQ, ...
We describe here two mouse mutants, yellow submarine (Ysb) and light coat and circling (Lcc). Ysb arose as the result of insertions of a transgene, pAA2, into the genome. Lcc is an independent,...
Expression analysis and chromosomal assignment of the human SFRS5/SRp40 gene (1997)
Snow, BE, Heng, HHQ, Shi, X-M, Zhou, Y, Du, K, Taub, R, ...
Alternative splicing plays a major role in the regulation of gene expression. SFRS5/SRp40 is a member of the serine/arginine (SR) protein family of regulators of alternative pre-mRNA splicing. We...
Osborne, LR, Herbick, J-A, Greavette, T, Heng, HHQ, Tsui, L-C, Scherer, SW
The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously...
Amplification of CFTR exon 9 sequences to multiple locations in the human genome (1997)
Rozmahel, R, Heng, HHQ, Duncan, A, X-M, Shi, Rommens, JM, Tsui, L-C
Cloning and characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene led to the identification and isolation of cDNA and genomic sequences that cross-hybridized to the...
Wang, A, Forman-Kay, J, Luo, Y, Luo, M, Chow, YH, Plumb, J, ...
Nuclear RNA splicing occurs in an RNA-protein complex, termed the spliceosome. U4/U6 snRNP is one of four essential small nuclear ribonucleoprotein (snRNP) particles (U1, U2, U5 and U4/U6) present in...
Dong, WF, Heng, HHQ, Lowsky, R, Xu, Y, DeCoteau, JF, Shi, XM, ...
We have identified a putative transcription factor, designated hLim-1, from human fetal brain using degenerate polymerase chain reaction (PCR) and cDNA library screening. The deduced open reading...
Malaney, S, Heng, HHQ, Tsui, LC, Shi, XM, Robinson, BH
We have localized the human gene encoding the 13.3-kDa subunit of mitochondrial complex III (UQCRB) to chromosome 8 using both radioactive in situ hybridization and fluorescence in situ...
Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques (1996)
Petronis, A, Heng, HHQ, Tatuch, Y, Shi, X-M, Klempan, TA, Tsui, L-C, ...
Recently, unstable trinucleotide repeats have been shown to be the etiologic factor in seven neuropsychiatric diseases, and they may play a similar role in other genetic disorders which exhibit...
Scherer, SW, Duvoisin, RM, Kuhn, R, Heng, HHQ, Belloni, E, Tsui, L-C
Metabotropic glutamate receptors (GRMs) are neurotransmitter receptors that respond to glutamate stimulations by activating GTP-binding proteins and modulating second-messenger cascades. Eight...
Regulation of meiotic chromatin loop size by chromosomal position (1996)
Heng, HHQ, Chamberlain, J, Shi, X-M, Spyropoulos, B, Tsui, L-C, Moens, P
At meiotic prophase, chromatin loops around a proteinaceous core, with the sizes of these loops varying between species. Comparison of the morphology of sequence-related inserts at different sites in...
Osborne, LR, Martindale, D, Scherer, SW, Shi, X-M, Huizenga, J, Heng, HHQ, ...
Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and...
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly (1996)
Belloni, E, Muenke, M, Roessler, E, Mitchell, HF, Siegel-Bartel, J, Frumkin, A, ...
Holoprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced...
Genomic organization and FISH mapping of human Pmel 17, the putative silver locus (1996)
Kim, K-K, Youn, B-S, Heng, HHQ, Shi, XM, Tsui, L-C, Lee, ZH, ...
The Pmel 17 gene is expressed preferentially in pigment cells. It has been mapped to human chromosome 12 pter-q21 and mouse chromosome 10, near the silver locus. The Pmel 17 gene contains an...
Gene mapping by in situ hybridization to free chromatin (1995)
A method is provided for detecting, ordering and mapping genes or DNA sequences in the genome of eukaryotic cells. The method comprises the steps of releasing free chromatin from the nuclei of the...
Isolation of three novel human genes encoding G protein-coupled receptors (1995)
Heiber, M, Docherty, JM, Shah, G, Nguyen, T, Cheng, R, Heng, HHQ, ...
We have cloned and mapped the chromosomal location of three novel human genes encoding G protein-coupled receptors that we have named GPR6, GPR5, and GPR4. The entire coding region for each of these...
O'Dowd, B, Reisine, T, Nguyen, T, Marchese, A, Cheng, R, Heng, HHQ, ...
Following the cloning of the opioid receptors mu, kappa, and delta, we conducted a search for related receptors. Using oligonucleotides based on the opioid and also the structurally related...
Barron-Casella, EA, Torres, MA, Scherer, SW, Heng, HHQ, Tsui, L-C, And, Casella
From a human retinal cDNA library, we have isolated cDNAs that are homologs for the alpha 2 and beta subunits of chicken Cap Z. The derived human alpha subunit shares 95% amino acid identity with the...
Wu, H-K, Heng, HHQ, Shi, X-M, Forsdyke, DR, Tsui, L-C, Mak, TW, ...
A basic helix-loop-helix phosphoprotein gene, G0S8, was recently isolated by differential screening of cDNA from human blood mononuclear cells stimulated with a T cell mitogen and cycloheximide. In...
Marchese, A, Heiber, M, Nguyen, T, Heng, HHQ, Saldivia, VR, Cheng, R, ...
We employed the polymerase chain reaction and genomic DNA library screening to clone novel human genes, GPR9 and GPR10, and a rat gene, GPR14. GPR9, GPR10, and GPR14 each encode G protein-coupled...
Heng, HHQ, Shi, XM, Scherer, SW, Andrulis, IL, Tsui, LC
We have mapped the asparagine synthetase gene (ASNS) to 7q21.3 by fluorescence in situ hybridization. While this study refined the localization of the gene, it also revealed a rearrangement in a...
Heng, HHQ, Xiao, H, Shi, X-M, Greenblatt, J, Tsui, L-C
General transcription factors are required for accurate initiation of transcription by RNA polymerase II. Human cDNAs encoding subunits of these factors have been cloned and sequenced. Using...
Feng, G-S, Shen, R, Heng, HHQ, Tsui, L-C, Kazlauskas, A, Pawson, T
The murine phosphotyrosine phosphatase, Syp, is a widely-expressed cytoplasmic enzyme that contains two SH2 domains. Syp is physically associated with activated receptors for epidermal growth factor...
The murine Xe169 gene escapes X-inactivation like its human homologue (1994)
Wu, J, Salido, EC, Yen, PH, Mohandas, TK, Heng, HHQ, Shi, X, ...
Among a number of genes that escape X-chromosome inactivation in humans, three have been evaluated in mice and unexpectedly all three are subject to X-inactivation. We report here the cloning and...
Organization of heterologous DNA inserts on the mouse meiotic chromosome core (1994)
Heng, HHQ, Tsui, L-C, Moens, PB
With simultaneous immunofluorescence and fluorescent in situ hybridization, we have determined the organization of native and heterologous DNA sequences relative to the cores of meiotic prophase...
Cloning of human genes encoding novel G protein-coupled receptors (1994)
Marchese, A, Docherty, J, Nguyen, T, Heiber, M, Cheng, R, Heng, HHQ, ...
We report the isolation and characterization of several novel human genes encoding G protein-coupled receptors. Each of the receptors contained the familiar seven transmembrane topography and most...
Ing, YL, Leung, IWL, Heng, HHQ, Tsui, L-C, Lassam, NJ
We have identified a novel protein kinase, designated MLK-3, from human thymus using RT-PCR and cDNA library screening. The deduced open reading frame, derived from sequencing a 3.5 kb MLK-3 cDNA,...
We have used the fluorescence in situ hybridization (FISH) technique to refine the localization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene on human chromosome 7. The...
Modes of DAPI banding and simultaneous in situ hybridization (1993)
By controlling the degree of chromatin denaturation through formamide incubation, or by heat treatment and/or by high pH, three types of high quality 4',6-diamidino-2-phenylindole (DAPI) bands can be...
Marsden, PA, Heng, HHQ, Scherer, SW, Stewart, RJ, Hall, AV, Shi, X-M, ...
Endothelial nitric oxide (NO) synthase is a unique NO synthase isoform that is expressed constitutively by vascular endothelium both in vivo and in vitro and is believed essential to local vascular...
Heng, HHQ, Xie, B, Shi, X-M, Tsui, L-C, Mahuran, DJ
The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate...
Ali, ST, Duncan, AMV, Schappert, K, Heng, HHQ, Tsui, L-C, Chow, W, ...
The 51-kDa flavoprotein subunit of mitochondrial NADH:ubiquinone oxidoreductase (Complex I) [NADH dehydrogenase (ubiquinone), flavoprotein 1 (51 kDa); EC 1.6.5.3] plays an important role in the...
A human gene that shows identity with the angiotensin receptor is located on chromosome 11 (1993)
O'Dowd, BF, Heiber, M, Chan, A, Heng, HHQ, Tsui, L-C, Kennedy, JL, ...
We report the cloning of a gene, intronless in its coding region, which we have named APJ. This gene was cloned using the polymerase chain reaction (PCR), with a set of primers designed on the basis...
High resolution mapping of mammalian genes by in situ hybridization to free chromatin (1992)
Heng, HHQ, Squire, J, Tsui, L-C
Fluorescence in situ hybridization to metaphase chromosomes or chromatin fibers in interphase nuclei is a powerful technique in mapping genes and DNA segments to specific chromosome region. We have...