Unknown

Dataset Information

0

Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution.


ABSTRACT: A hallmark of positive selection (adaptive evolution) in protein-coding regions is a d(N)/d(S) ratio >1, where d(N) is the number of nonsynonymous substitutions/nonsynonymous sites and d(S) is the number of synonymous substitutions/synonymous sites. Zonadhesin is a male reproductive protein localized on the sperm head, comprising many domains known to be involved in cell-cell interaction or cell adhesion. Previous studies have shown that VWD domains (homologous to the D domains of the von Willebrand factor) are involved directly in binding to the female zona pellucida (ZP) in a species-specific manner. In this study, we sequenced 47 coding exons in 12 primate species and, by using maximum-likelihood methods to determine sites under positive selection, we show that VWD2, membrane/A5 antigen mu receptor, and mucin-like domains in zonadhesin are rapidly evolving and, thus, may be involved in binding to the ZP in a species-specific manner in primates. In addition, polymorphism data from 48 human individuals revealed significant polymorphism-to-divergence heterogeneity and a significant departure from equilibrium-neutral expectations in the frequency spectrum, suggesting balancing selection and positive selection occurring in zonadhesin (ZAN) within human populations. Finally, we observe adaptive evolution in haplotypes segregating for a frameshift mutation that was previously thought to indicate that ZAN was a potential pseudogene.

SUBMITTER: Gasper J 

PROVIDER: S-EPMC1698559 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature

altmetric image

Publications

Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution.

Gasper Joe J   Swanson Willie J WJ  

American journal of human genetics 20060915 5


A hallmark of positive selection (adaptive evolution) in protein-coding regions is a d(N)/d(S) ratio >1, where d(N) is the number of nonsynonymous substitutions/nonsynonymous sites and d(S) is the number of synonymous substitutions/synonymous sites. Zonadhesin is a male reproductive protein localized on the sperm head, comprising many domains known to be involved in cell-cell interaction or cell adhesion. Previous studies have shown that VWD domains (homologous to the D domains of the von Willeb  ...[more]

Similar Datasets

| S-EPMC1859838 | biostudies-literature
| S-EPMC2621166 | biostudies-literature
| S-EPMC3689352 | biostudies-literature
| S-EPMC1462376 | biostudies-other
| S-EPMC1461843 | biostudies-other
| S-EPMC6123737 | biostudies-literature
| S-EPMC5754790 | biostudies-literature
| S-EPMC20941 | biostudies-literature
| S-EPMC6675142 | biostudies-literature
| S-EPMC5528238 | biostudies-literature