Regions of low single-nucleotide polymorphism incidence in human and orangutan xq: deserts and recent coalescences.

Abstract:

:While scanning for single-nucleotide polymorphisms (SNPs) in the human Xq25-q28 region of CEPH families, we found six long "deserts" of low SNP incidence representing 28% of the investigated genome. One was 1.66 Mb in length. To determine whether these SNP deserts were due to reduced input of mutations or to recent coalescent events such as bottlenecks or selective sweeps, comparative sequence was determined from a female orangutan. The mean divergence was 2.9% and was not reduced in deserts compared with nondesert regions. Thus, the best explanation for the SNP deserts is recent coalescent events in humans. These events are the cause of substantial variation in human noncoding SNP incidence. In addition, the mutational spectrum in humans and orangutans was estimated as 63% AG (and CT), 17% AC (and GT), 8% CG, 4% AT, and 8% insertion/deletions. The average lifetime of a SNP destined to become fixed for a new allele between these species was estimated as 284,000 years.

journal_name

Genomics

journal_title

Genomics

authors

Miller RD,Taillon-Miller P,Kwok PY

doi

10.1006/geno.2000.6417

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

78-88

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(00)96417-6

journal_volume

71

pub_type

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