aligned transcripts,as well as partial (EST) evidence for 208 additional splice variants, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes.These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukaemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. Whereas the segmental duplications of chromosome 16 are enriched in the relatively gene-poor pericentromere of the p arm, some are involved in recent gene duplication and conversion events that are likely to have had an impact on the evolution of primates and human disease susceptibility.
Publication:The sequence and analysis of duplication-rich human chromosome 16. Nature 432, 988-994 (23 Dec 2004)
General project/clone information: JGI Human Genome Project page