The DNA sequence and analysis of human chromosome 13

被引：68

作者：

Dunham, A

Matthews, LH

Burton, J

Ashurst, JL

Howe, KL

Ashcroft, KJ

Beare, DM

Burford, DC

Hunt, SE

Griffiths-Jones, S

Jones, MC

Keenan, SJ

Oliver, K

Scott, CE

Ainscough, R

Almeida, JP

Ambrose, KD

Andrews, DT

Ashwell, RIS

Babbage, AK

Bagguley, CL

Bailey, J

Bannerjee, R

Barlow, KF

Bates, K

Beasley, H

Bird, CP

Bray-Allen, S

Brown, AJ

Brown, JY

Burrill, W

Carder, C

Carter, NP

Chapman, JC

Clamp, ME

Clark, SY

Clarke, G

Clee, CM

Clegg, SCM

Cobley, V

Collins, JE

Corby, N

Coville, GJ

Deloukas, P

Dhami, P

Dunham, I

Dunn, M

Earthrowl, ME

Ellington, AG

Faulkner, L

机构：

[1] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England

[2] Galton Lab, HUGO Gene Nomenclature Comm, London NW1 2HE, England

来源：

NATURE | 2004年 / 428卷 / 6982期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/nature02379

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb.

引用

页码：522 / 528

页数：7

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