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 ~170-megabase human chromosome 7, first mapping this chromosome and then facilitating its sequencing. Indeed, the sequencing of human chromosome 7 is now complete. In parallel, we are actively using this sequence data to construct physical maps of other vertebrate genomes, focusing on targeted genomics regions, en route to their sequencing. The latter includes a large program of multi-species comparative sequencing being performed in collaboration with the NIH Intramural Sequencing Center (NISC). Finally, there are ongoing projects aiming to study regions of chromosome 7 associated with human genetic disease. These efforts have resulted in our identification of the Pendred syndrome gene, a gene responsible for cerebral cavernous malformations, a tumor suppressor gene, 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 series of projects aiming to harness the power of comparative sequencing to address questions in vertebrate genome structure, function, and evolution.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Intramural Research (Z01)
Project #
Application #
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Human Genome Research
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; Lee-Lin, Shih-Queen; Wasterlain, Amy et al. (2006) Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 26:10397-406
Elango, Navin; Thomas, James W; NISC Comparative Sequencing Program et al. (2006) Variable molecular clocks in hominoids. Proc Natl Acad Sci U S A 103:1370-5
Margulies, Elliott H; Chen, Christina W; Green, Eric D (2006) Differences between pair-wise and multi-sequence alignment methods affect vertebrate genome comparisons. Trends Genet 22:187-93

Showing the most recent 10 out of 42 publications