Research Topics
Genomes and Genes
| E D GreenSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Comparative sequence analyses reveal sites of ancestral chromosomal fusions in the Indian muntjac genomeVicky Tsipouri
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bethesda, Maryland 20892, USA
Genome Biol 9:R155. 2008..Previous studies have suggested that a series of telocentric chromosome fusion events involving telomeric and/or satellite repeats led to the extant Indian muntjac karyotype...
Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotesRebecca A Chodroff
Department of Physiology, Anatomy, and Genetics, Le Gros Clark Building South Parks Road, University of Oxford, Oxford OX1 3QX, UK
Genome Biol 11:R72. 2010..This dearth of information is partially attributable to a lack of established non-protein-coding RNA (ncRNA) orthologs among birds and mammals within sequence and expression databases...
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse modelPhiline Wangemann
Anatomy and Physiology Department, Kansas State University, Manhattan, Kansas, USA
BMC Med 2:30. 2004..We investigated the relationship between pendrin and deafness using mice that have (Slc26a4+/+) or lack a complete Slc26a4 gene (Slc26a4-/-)...
Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse modelSairam V Jabba
Anatomy and Physiology Department, Kansas State University, Manhattan, KS 66506, USA
BMC Med 4:37. 2006..Here we determine the time course of hyperpigmentation and marginal cell disorganization, and test the hypothesis that inflammation contributes to this tissue degeneration...
Distinct retroelement classes define evolutionary breakpoints demarcating sites of evolutionary noveltyMark S Longo
Center for Applied Genetics and Technology, Department of Molecular and Cell Biology, University of Connecticut, Storrs, CT 06269, USA
BMC Genomics 10:334. 2009..Likewise, the conservation of specific sequence motifs or classes at EBs among divergent mammalian taxa has not been determined...
Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletionsHelen Piontkivska
Department of Biology, Pennsylvania State University, University Park, PA 16802, USA
BMC Genomics 5:31. 2004..8 Mb sequence block encompassing the common region deleted in WBS, with the exception of an overall reversed physical orientation between human and mouse...
Dynamic evolution of V1R putative pheromone receptors between Mus musculus and Mus spretusVanessa C Kurzweil
Department of Molecular Biology and Biochemistry, Wesleyan University, Middletown, CT 06457, USA
BMC Genomics 10:74. 2009....
Effort required to finish shotgun-generated genome sequences differs significantly among vertebratesRobert W Blakesley
NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
BMC Genomics 11:21. 2010..As a result, the vast majority of vertebrate genome sequences generated to date remain at a draft stage...
The value of avian genomics to the conservation of wildlifeMichael N Romanov
Genetics Division, San Diego Zoo s Institute for Conservation Research, Zoological Society of San Diego, Arnold and Mabel Beckman Center for Conservation Research, 15600 San Pasqual Valley Rd, Escondido, CA 92027, USA
BMC Genomics 10:S10. 2009..g., aggression, social behavior, sexual behavior, parental care).In this paper we outline the utility of these species as well as report on recent advances in the study of their genomes...
Conversion events in gene clustersGiltae Song
Center for Comparative Genomics and Bioinformatics, Pennsylvania State University, University Park, PA 16802 USA
BMC Evol Biol 11:226. 2011..In particular, conversion events can mislead inferences about the relationships among these regions, as traced by traditional methods such as construction of phylogenetic trees or multi-species alignments...
Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analysesBelen Hurle
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
BMC Evol Biol 11:23. 2011....
Identification of the Otopetrin Domain, a conserved domain in vertebrate otopetrins and invertebrate otopetrin-like family membersInna Hughes
Department of Developmental Biology, Washington University School of Medicine, St, Louis, MO 63110, USA
BMC Evol Biol 8:41. 2008..Vertebrate Otop1 and its paralogues Otop2 and Otop3 define a new gene family with homology to the invertebrate Domain of Unknown Function 270 genes (DUF270; pfam03189)...
Strategies for the systematic sequencing of complex genomesE D Green
Genome Technology Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Rev Genet 2:573-83. 2001..As well as providing data of fundamental biological significance, these landmark accomplishments have yielded important strategic insights that are guiding current and future genome-sequencing projects...
The role of aminoacyl-tRNA synthetases in genetic diseasesAnthony Antonellis
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Genomics Hum Genet 9:87-107. 2008....
Charting a course for genomic medicine from base pairs to bedsideEric D Green
National Human Genome Research Institute, National Institutes of Health, 31 Center Dr, Bethesda, Maryland 20892 2152, USA
Nature 470:204-13. 2011..Here we articulate a 2011 vision for the future of genomics research and describe the path towards an era of genomic medicine...
Comparative physical mapping of targeted regions of the rat genomeT J Summers
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, Bldg. 49, Rm. 2A08 Bethesda, Maryland 20892, USA
Mamm Genome 12:508-12. 2001....
The human Y4 small cytoplasmic RNA gene is controlled by upstream elements and resides on chromosome 7 with all other hY scRNA genesR J Maraia
Laboratory of Molecular Growth Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892
Nucleic Acids Res 22:3045-52. 1994..SCHs and chromosome 7-enriched YACs were used to demonstrate that all four hY RNA genes reside on human chromosome 7...
Comparative analyses of multi-species sequences from targeted genomic regionsJ W Thomas
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nature 424:788-93. 2003..Analysis of transposable element insertions highlights the variation in genome dynamics among these species and confirms the placement of rodents as a sister group to the primates...
Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndromeJ L Doyle
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Cytogenet Cell Genet 90:285-90. 2000..These findings reveal another interesting evolutionary difference between the human and mouse WS regions and provide an additional candidate gene to evaluate with respect to its possible role in the pathogenesis of WS...
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner earL A Everett
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 96:9727-32. 1999..These studies provide key first steps toward defining the precise role of pendrin in inner ear development and elucidating the pathogenic mechanism for the deafness seen in Pendred's syndrome...
Detecting highly conserved regions of the human genome by multispecies sequence comparisonsE H Margulies
Genome Technology Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Cold Spring Harb Symp Quant Biol 68:255-63. 2003
Comparative genome mapping in the sequence-based era: early experience with human chromosome 7J W Thomas
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 USA
Genome Res 10:624-33. 2000..Together, these approaches illustrate how the availability of genomic sequence directly facilitates studies in comparative genomics and genome evolution...
Mitotic checkpoint locus MAD1L1 maps to human chromosome 7p22 and mouse chromosome 5D Y Jin
Laboratory of Molecular Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Genomics 55:363-4. 1999
Comparative analyses of the Dominant megacolon-SOX10 genomic interval in mouse and humanE M Southard-Smith
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, Bethesda, Maryland 20892-4470, USA
Mamm Genome 10:744-9. 1999
Human-mouse comparative mapping of the genomic region containing CDK6: localization of an evolutionary breakpointJ W Thomas
Genome Technology Branch, National Human Genome Research Institute, 49 Convent Drive, Bldg 49, Room 2A08, National Institutes of Health, Bethesda, Maryland 20892, USA
Mamm Genome 10:764-7. 1999
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genesR E Ellsworth
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 97:1172-7. 2000..Furthermore, the generated sequence reveals the precise architecture of genes residing near CFTR/Cftr, including one known gene (WNT2/Wnt2) and two previously unknown genes that immediately flank CFTR/Cftr...
Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21W L Yan
Child Psychiatry, National Institute of Mental Health, Bethesda, Maryland 20892 4405, USA
Am J Med Genet 96:749-53. 2000..Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749-753, 2000. Published 2000 Wiley-Liss, Inc...
The human obese (OB) gene: RNA expression pattern and mapping on the physical, cytogenetic, and genetic maps of chromosome 7E D Green
Diagnostic Development Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 5:5-12. 1995....
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretionI E Royaux
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 98:4221-6. 2001..Together, these studies indicate that pendrin is an apical anion transporter in intercalated cells of CCDs and has an essential role in renal bicarbonate secretion...
Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31J C Zenklusen
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 27:392-8. 2001..Our data indicate that ST7 is a TSG within chromosome 7q31 and may have an important role in the development of some types of human cancer...
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)Y Anikster
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Mol Genet Metab 66:111-6. 1999..The addition of D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb deletion...
Gene encoding human Ro-associated autoantigen Y5 RNAR Maraia
Laboratory of Molecular Growth Regulation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Nucleic Acids Res 24:3552-9. 1996..Consistent with the proposal of O'Brien and Harley [O'Brian,C.A. and Wolin,S.L. (1992) Gene 116, 285-289], analysis of flanking sequences suggest that the hY5 RNA gene may have originated as a retroposon...
Effects of thyroglobulin and pendrin on iodide flux through the thyrocyteL D Kohn
Cell Regulation Section, Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA
Trends Endocrinol Metab 12:10-6. 2001..A potential new dynamic for iodide flux and thyroid hormone formation in thyrocytes has thus emerged and is supported by in vivo data...
Cytogenetic and molecular characterization of random chromosomal rearrangements activating the drug resistance gene, MDR1/P-glycoprotein, in drug-selected cell lines and patients with drug refractory ALLT Knutsen
Medicine Branch, Division of Clinical Sciences, NCI, NIH, Bethesda, Maryland 20892, USA
Genes Chromosomes Cancer 23:44-54. 1998..These results support the proposal that random chromosomal rearrangement leading to capture and activation of MDR1 is a mechanism of acquired drug resistance...
ComboScreen facilitates the multiplex hybridization-based screening of high-density clone arraysD C Jamison
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Bioinformatics 16:678-84. 2000..We have used this program extensively for constructing mouse sequence-ready BAC contig maps...
The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variantsJ Zhang
National Center for Biotechnology Information, National Institute of Health, Bethesda, MD, USA
Pharmacogenetics 11:555-72. 2001....
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndromeL A Everett
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 10:153-61. 2001..The ultrastructural defects seen in the Pds(-/-) mice provide important clues about the mechanisms responsible for the inner-ear pathology associated with PDS mutations...
Molecular characterization of the mouse p47-phox (Ncf1) gene and comparative analysis of the mouse p47-phox (Ncf1) gene to the human NCF1 geneU DeSilva
Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland, 20892, USA
Mol Cell Biol Res Commun 3:224-30. 2000....
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletionJ W Touchman
NIH Intramural Sequencing Center, National Institutes of Health, Gaithersburg, Maryland 20877, USA
Genome Res 10:165-73. 2000..e., those homozygous for the common deletion). [The sequence data described in this paper have been submitted to the GenBank data library under accession nos. AF168787 and AF163573.]..
Comparative mapping of the region of human chromosome 7 deleted in williams syndromeU DeSilva
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 9:428-36. 1999..23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse...
2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA librariesJ W Touchman
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 7:281-92. 1997..Furthermore, the libraries, sequence data, and mapping information will contribute to the construction of a chromosome 7 transcript map...
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)L A Everett
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 17:411-22. 1997....
Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complexS Zhan
Pediatric Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Blood 88:2714-21. 1996..In addition, the mRNA for p40-phox is expressed in megakaryocytic cells, but not in erythroid cells...
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochleaL Van Laer
Department of Medical Genetics, University of Antwerp, Belgium
Eur J Hum Genet 5:397-405. 1997..The complete cDNA sequence of CG1, encoding a 423 amino acid protein of unknown function, was determined. Mutation analysis of the CG1 gene in DFNA5 patients, however, could not reveal a disease-causing mutation...
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndromeM E Curran
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112
Cell 80:795-803. 1995..In one kindred, the mutation arose de novo. Northern blot analyses show that HERG is strongly expressed in the heart. These data indicate that HERG is LQT2 and suggest a likely cellular mechanism for torsade de pointes...
The human reelin gene: isolation, sequencing, and mapping on chromosome 7U DeSilva
Genome Res 7:157-64. 1997..Together, these studies provide the sequence information and genetic tools for performing more detailed analyses of RELN in an attempt to define its role in human brain development and possibly in human disease...
A mutation in PDS causes non-syndromic recessive deafnessX C Li
Nat Genet 18:215-7. 1998
Localization of the aquaporin 1 (AQP1) gene within a YAC contig containing the polymorphic markers D7S632 and D7S526T J Keen
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Genomics 25:599-600. 1995
High-resolution genomic mapping of the three human replication protein A genes (RPA1, RPA2, and RPA3)C B Umbricht
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
Genomics 20:249-57. 1994..Since RPA is an essential component of major metabolic events affecting DNA, the physical mapping of the genes for it may help elucidate the biochemical basis of genetic disorders involving DNA metabolism...
Characterization of the complete genomic structure of human thromboxane synthase gene and functional analysis of its promoterR Tazawa
Vascular Biology Research Center and Division of Hematology, Department of Internal Medicine, University of Texas Houston Medical School, 77030, USA
Arch Biochem Biophys 334:349-56. 1996..This region was regulated negatively by cis-elements located between -1562 and -248. Moreover, the regions outside -1562/+137 might control tissue-specific TXAS expression...
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndromeT D Howard
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287 3914, USA
Nat Genet 15:36-41. 1997..The emerging cascade of molecular components involved in craniofacial and limb development now includes TWIST, which may function as an upstream regulator of FGFRs...
Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mappingE D Green
Department of Genetics, Washington University School of Medicine, St Louis, MO 63110
Science 250:94-8. 1990..Individual YAC's as large as 790 kilobase pairs and containing the entire CF gene were constructed in vivo by meiotic recombination in yeast between pairs of overlapping YAC's...
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumoursD Perotti
Department of Experimental Oncology, Istituto Nazionale Tumori, Milano, Italy
Genes Chromosomes Cancer 31:42-7. 2001..For this reason, we speculate that the identified interval contains a gene whose inactivation is important for the development of at least a fraction of WTs...
Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) geneR E McGuire
Human Genetics Center, University of Texas Health Science Center, Houston 77225, USA
Genomics 41:481-4. 1997..With six coding exons and five introns, the genomic structure of ARF5 is unique among the mammalian ARF genes and provides insight about the evolutionary history of this ancient gene family...
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15L Van Laer
Department of Medical Genetics, University of Antwerp, Belgium
Hum Genet 99:831-3. 1997..In this report, we constructed a YAC contig from chromosome 7p14-p15, between markers D7S2496 and D7S1838, and determined the position of the HOXA1 gene and the hnRPA2B1 gene in this YAC contig...
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genesX Meng
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA
Hum Genet 103:590-9. 1998..BCL7B belongs to a novel family of highly conserved genes. We describe the expression profile and genomic structure for each of these genes. Hemizygous deletion of one or more of these genes may contribute to developmental defects in WS...
Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexiaD Harold
Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK
Mol Psychiatry 11:1085-91, 1061. 2006..Our data also suggests a possible interaction between KIAA0319 and DCDC2, which requires further testing...
Genomic variation in multigenic traits: Hirschsprung diseaseA S McCallion
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Cold Spring Harb Symp Quant Biol 68:373-81. 2003
Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1K Torigoe
Department of Biochemistry, Kyushu University School of Medicine, Fukuoka, Japan
Genomics 49:14-22. 1998..5-Mb region. The integrated physical and exon maps should prove valuable for both fine mapping and determination of a complete gene map of this segment of the genome...
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous diseaseA Gorlach
The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA
J Clin Invest 100:1907-18. 1997....
