The sequence and analysis of human chromosome 7 is revealed in this week's Nature (Vol. 424, No. 6945, dated 10 July 2003, pp. 157-164). The structure, deciphered by Richard K. Wilson and colleagues, is the largest of our 24 chromosomes to have been unravelled so far.
Chromosome 7 has been linked to many intensively studied human diseases including cystic fibrosis, hereditary deafness and cancer. The new sequence data, which is over 99% complete, show extremely good concordance with previous physical and genetic maps. The chromosome is now known to contain 153 million base pairs and 1,150 protein-coding genes.
Unusually large amounts of the chromosome sequence are duplicated, the team found. The repetitions may play a role in helping new genes to evolve, and may also be associated with disease. Duplicated segments were found in a region of the chromosome known to be associated with Williams–Beuren syndrome, a congenital condition causing a characteristic elfin-like face, mental retardation, growth deficiency and cardiovascular anomalies.
The chromosome 7 sequence data, from the Human Genome Project, have been deposited in publicly accessible worldwide genome databases from the beginning of the project. Together, this information should help researchers to understand the genetic basis for human health and disease.
(Washington University School of Medicine, St. Louis, MO, USA)
Tel: +1 314 286 1804
(C) Nature press release.
Message posted by: Trevor M. D'Souza