HUMAN CHROMOSOME 7: SEQUENCING, COMPARATIVE GENOMICS, AND STUDY OF DISEASE GENES

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A central activity of the ongoing Human Genome Project is the mapping and sequencing of all human chromosomes. The major aims of the Physical Mapping Section are to construct integrated and annotated physical maps of mammalian chromosomes, to facilitate the sequencing of the corresponding DNA, and to utilize the resulting information for studying important biological problems. We have focused our attention on the ~170-megabase human chromosome 7. Specifically, we have constructed yeast artificial chromosome (YAC)- and bacterial artificial chromosome (BAC)-based physical maps of this region of the human genome. The systematic sequencing of the chromosome is now well advanced, being performed in collaboration with two extramural genome centers (at Washington University and the University of Washington). Over 60% of chromosome 7 has now been sequenced to at least a preliminary draft form, with the expectation that this chromosome will be among the first few completely sequenced. In parallel, we are actively using this sequence data to construct physical maps of the corresponding regions of the mouse genome en route its sequencing. Finally, there are several ongoing projects aiming to study regions of chromosome 7 associated with human genetic disease. These efforts resulted in our recent identification of the Pendred syndrome gene as well as a gene responsible for cerebral cavernous malformations. The latter findings have opened up numerous new avenues of biological study relating to the structure and function of the genes and their encoded proteins. Similar searches continue for the genes implicated in a number of other important diseases, including Charcot-Marie-Tooth syndrome (CMT2D), Williams syndrome, and autism. - Autism Biotechnology Research Cardiovascular Research Cystic Fibrosis Epilepsy Gene Mapping (Human) Gene Mapping (Non-Human) Genetics Human Genome Research