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The sequence and analysis of duplication rich human chromosome 16

Journal Article · · Nature
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We report here the 78,884,754 base pairs of finished human chromosome 16 sequence, representing over 99.9 percent of its euchromatin. Manual annotation revealed 880 protein coding genes confirmed by 1,637 aligned transcripts, 19 tRNA genes, 341 pseudogenes and 3 RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukemia. Several large-scale structural polymorphisms spanning hundreds of kilobasepairs were identified and result in gene content differences across humans. One of the unique features of chromosome 16 is its high level of segmental duplication, ranked among the highest of the human autosomes. While the segmental duplications are enriched in the relatively gene poor pericentromere of the p-arm, some are involved in recent gene duplication and conversion events which are likely to have had an impact on the evolution of primates and human disease susceptibility.
Research Organization:
Ernest Orlando Lawrence Berkeley National Laboratory, Berkeley, CA (US)
Sponsoring Organization:
USDOE Director. Office of Science. Office of Biological and Environmental Research, Stanford University, Los Alamos National Laboratory
DOE Contract Number:
AC03-76SF00098
OSTI ID:
842679
Report Number(s):
LBNL--56331
Journal Information:
Nature, Journal Name: Nature Journal Issue: 7020 Vol. 432
Country of Publication:
United States
Language:
English

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Related Subjects

60 APPLIED LIFE SCIENCES