The major aims of the Physical Mapping Section are to construct detailed physical maps of vertebrate chromosomes, to facilitate the sequencing of the corresponding DNA, and to utilize the resulting information for studying important biological problems. We initially focused our attention on the human genome, but are now actively studying myriad other vertebrate genomes. The latter includes a large program of multi-species comparative sequencing being performed in collaboration with the NIH Intramural Sequencing Center (NISC). This involves a series of projects aiming to harnass the power of comparative sequencing to address questions in vertebrate genome structure, function, and evolution. The latter work includes major contributions to the ongoing ENCODE project. In parallel, there are other efforts aiming to study regions of the human genome associated with human genetic disease. These efforts have resulted in our identification of the Pendred syndrome gene, a gene responsible for cerebral cavernous malformations, and a gene defective in one form of Charcot-Marie-Tooth syndrome (CMT2D). These findings have opened up numerous new avenues of biological study relating to the structure and function of the genes and their encoded proteins, including the development of mouse models for these genetics disorders. Most recently, we have initiated a number of medical sequencing projects to examine the role of sequence variation in human disease. This also involves collaboration with the NIH Intramural Sequencing Center (NISC).

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000060-13
Application #
7594298
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
13
Fiscal Year
2007
Total Cost
$3,968,041
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code
(2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447:799-816
Nikolaev, Sergey; Montoya-Burgos, Juan I; Margulies, Elliott H et al. (2007) Early history of mammals is elucidated with the ENCODE multiple species sequencing data. PLoS Genet 3:e2
Margulies, Elliott H; Cooper, Gregory M; Asimenos, George et al. (2007) Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res 17:760-74
Zhang, Wei; Bouffard, Gerard G; Wallace, Susan S et al. (2007) Estimation of DNA sequence context-dependent mutation rates using primate genomic sequences. J Mol Evol 65:207-14
Hurle, Belen; Swanson, Willie; NISC Comparative Sequencing Program et al. (2007) Comparative sequence analyses reveal rapid and divergent evolutionary changes of the WFDC locus in the primate lineage. Genome Res 17:276-86
Cretekos, Chris J; Deng, Jian-Min; Green, Eric D et al. (2007) Isolation, genomic structure and developmental expression of Fgf8 in the short-tailed fruit bat, Carollia perspicillata. Int J Dev Biol 51:333-8
Keebaugh, Alaine C; Sullivan, Robert T; NISC Comparative Sequencing Program et al. (2007) Gene duplication and inactivation in the HPRT gene family. Genomics 89:134-42
Antonellis, Anthony; Bennett, William R; Menheniott, Trevelyan R et al. (2006) Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Hum Mol Genet 15:259-71
Riazuddin, Saima; Khan, Shaheen N; Ahmed, Zubair M et al. (2006) Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet 78:137-43
Caceres, Mario; NISC Comparative Sequencing Program; Thomas, James W (2006) The gene of retroviral origin Syncytin 1 is specific to hominoids and is inactive in Old World monkeys. J Hered 97:100-6

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