title: Identifying highly conserved and highly differentiated gene ontology categories in human populations.
abstract: Detecting and interpreting certain system-level characteristics associated with human population genetic differences is a challenge for human geneticists. In this study, we conducted a population genetic study using the HapMap genotype data to identify certain special Gene Ontology (GO) categories associated with high/low genetic difference among 11 Hapmap populations. Initially, the genetic differences in each gene region among these populations were measured using allele frequency, linkage disequilibrium (LD) pattern, and transferability of tagSNPs. The associations between each GO term and these genetic differences were then identified. The results showed that cellular process, catalytic activity, binding, and some of their sub-terms were associated with high levels of genetic difference, and genes involved in these functional categories displayed, on average, high genetic diversity among different populations. By contrast, multicellular organismal processes, molecular transducer activity, and some of their sub-terms were associated with low levels of genetic difference. In particular, the neurological system process under the multicellular organismal process category had low levels of genetic difference; the neurological function also showed high evolutionary conservation between species in some previous studies. These results may provide a new insight into the understanding of human evolutionary history at the system-level.
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, China.
authors.forename: Yongshuai
authors.initials: Y
authors.lastname: Jiang
authors.forename: Ruijie
authors.initials: R
authors.lastname: Zhang
authors.forename: Peng
authors.initials: P
authors.lastname: Sun
authors.forename: Guoping
authors.initials: G
authors.lastname: Tang
authors.forename: Xuehong
authors.initials: X
authors.lastname: Zhang
authors.forename: Xing
authors.initials: X
authors.lastname: Wang
authors.forename: Xiaodan
authors.initials: X
authors.lastname: Guo
authors.forename: Qiuyu
authors.initials: Q
authors.lastname: Wang
authors.forename: Xia
authors.initials: X
authors.lastname: Li
mesh_terms: D017124:Conserved Sequence / Q000235:genetics*; D030541:Databases, Genetic; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D058977:Molecular Sequence Annotation; D020641:Polymorphism, Single Nucleotide