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 focus our attention on the human genome and 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 harness 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 and evolution. This also involves collaboration with the NIH Intramural Sequencing Center (NISC).
| Blech-Hermoni, Yotam N; Ziegler, Shira G; Hruska, Kathleen S et al. (2010) In silico and functional studies of the regulation of the glucocerebrosidase gene. Mol Genet Metab 99:275-82 |
| Schueler, Mary G; Swanson, Willie; Thomas, Pamela J et al. (2010) Adaptive evolution of foundation kinetochore proteins in primates. Mol Biol Evol 27:1585-97 |
| Chodroff, Rebecca A; Goodstadt, Leo; Sirey, Tamara M et al. (2010) Long noncoding RNA genes: conservation of sequence and brain expression among diverse amniotes. Genome Biol 11:R72 |
| Biesecker, Leslie G; Mullikin, James C; Facio, Flavia M et al. (2009) The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 19:1665-74 |
| Zhang, Yu; Song, Giltae; Vinar, Tomás et al. (2009) Evolutionary history reconstruction for Mammalian complex gene clusters. J Comput Biol 16:1051-70 |
| Rudd, M Katharine; Endicott, Raelynn M; Friedman, Cynthia et al. (2009) Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event. Genome Res 19:33-41 |
| Dennis, Megan Y; Paracchini, Silvia; Scerri, Thomas S et al. (2009) A common variant associated with dyslexia reduces expression of the KIAA0319 gene. PLoS Genet 5:e1000436 |
| Longo, Mark S; Carone, Dawn M; NISC Comparative Sequencing Program et al. (2009) Distinct retroelement classes define evolutionary breakpoints demarcating sites of evolutionary novelty. BMC Genomics 10:334 |
| Loftus, Stacie K; Antonellis, Anthony; Matera, Ivana et al. (2009) Gpnmb is a melanoblast-expressed, MITF-dependent gene. Pigment Cell Melanoma Res 22:99-110 |
| Antonellis, Anthony; Huynh, Jimmy L; Lee-Lin, Shih-Queen et al. (2008) Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet 4:e1000174 |
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