Variation of the oxytocin/neurophysin I (OXT) gene in four human populations.
Oxytocin is a short peptide with multiple functions in human biology and has been implicated in autism. We aimed to determine the normal pattern of variation around the oxytocin gene and resequenced it and its flanking regions in 91 individuals from four HapMap populations and one chimpanzee. We identified 14 single nucleotide polymorphisms (SNPs), all noncoding, including eight that were novel. Population genetic analyses were largely consistent with a neutral evolutionary history, but an Hudson-Kreitman-Aguadé (HKA) test revealed more variation within the human population than expected from the level of chimpanzee-human divergence.
Xu
Yang
Y
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs., CB10 1SA, UK.|Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, 157 Baojian Road, Nangang District, 150086, Harbin, People's Republic of China.
Xue
Yali
Y
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs., CB10 1SA, UK.
Asan
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs., CB10 1SA, UK.
Daly
Allan
A
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs., CB10 1SA, UK.
Wu
Lijie
L
Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, 157 Baojian Road, Nangang District, 150086, Harbin, People's Republic of China. wljhyd@ems.hrbmu.edu.cn.
Tyler-Smith
Chris
C
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs., CB10 1SA, UK. cts@sanger.ac.uk.
D000818:Animals; D017124:Conserved Sequence / Q000235:genetics; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D009481:Neurophysins / Q000235:genetics*; D010121:Oxytocin / Q000235:genetics*; D002679:Pan troglodytes / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
D009481:Neurophysins; D010121:Oxytocin