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Nature, 2004-12, Vol.432 (7020), p.988-994
2004

Details

Autor(en) / Beteiligte
Titel
The sequence and analysis of duplication-rich human chromosome 16
Ist Teil von
  • Nature, 2004-12, Vol.432 (7020), p.988-994
Ort / Verlag
London: Nature Publishing
Erscheinungsjahr
2004
Link zum Volltext
Quelle
PBSC : Psychology and Behavioral Sciences Collection - Journals
Beschreibungen/Notizen
  • Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 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.

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