Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

Brendan J. Loftus, Ung Jin Kim, Victoria P. Sneddon, Francis Kalush, Rhonda Brandon, Joyce Fuhrmann, Tanya Mason, Marie L. Crosby, Mary Barnstead, Lisa Cronin, Anne Deslattes Mays, Yicheng Cao, Robert X. Xu, Hyung Lyun Kang, Steve Mitchell, Evan E. Eichler, Peter C. Harris, J. Craig Venter, Mark D. Adams

Research output: Contribution to journalArticlepeer-review

124 Scopus citations


Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease.

Original languageEnglish (US)
Pages (from-to)295-308
Number of pages14
Issue number3
StatePublished - Sep 15 1999

ASJC Scopus subject areas

  • Genetics


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