論文

査読有り
2016年7月

Emergence and Evolution of Hominidae-Specific Coding and Noncoding Genomic Sequences

GENOME BIOLOGY AND EVOLUTION
  • Morteza Mahmoudi Saber
  • ,
  • Isaac Adeyemi Babarinde
  • ,
  • Nilmini Hettiarachchi
  • ,
  • Naruya Saitou

8
7
開始ページ
2076
終了ページ
2092
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1093/gbe/evw132
出版者・発行元
OXFORD UNIV PRESS

Family Hominidae, which includes humans and great apes, is recognized for unique complex social behavior and intellectual abilities. Despite the increasing genome data, however, the genomic origin of its phenotypic uniqueness has remained elusive. Clade-specific genes and highly conserved noncoding sequences (HCNSs) are among the high-potential evolutionary candidates involved in driving clade-specific characters and phenotypes. On this premise, we analyzed whole genome sequences along with gene orthology data retrieved from major DNA databases to find Hominidae-specific (HS) genes and HCNSs. We discovered that Down syndrome critical region 4 (DSCR4) is the only experimentally verified gene uniquely present in Hominidae. DSCR4 has no structural homology to any known protein and was inferred to have emerged in several steps through LTR/ERV1, LTR/ERVL retrotransposition, and transversion. Using the genomic distance as neutral evolution threshold, we identified 1,658 HSHCNSs. Polymorphism coverage and derived allele frequency analysis of HS HCNSs showed that these HCNSs are under purifying selection, indicating that they may harbor important functions. They are overrepresented in promoters/untranslated regions, in close proximity of genes involved in sensory perception of sound and developmental process, and also showed a significantly lower nucleosome occupancy probability. Interestingly, many ancestral sequences of the HS HCNSs showed very high evolutionary rates. This suggests that new functions emerged through some kind of positive selection, and then purifying selection started to operate to keep these functions.

リンク情報
DOI
https://doi.org/10.1093/gbe/evw132
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000381502000001&DestApp=WOS_CPL
ID情報
  • DOI : 10.1093/gbe/evw132
  • ISSN : 1759-6653
  • Web of Science ID : WOS:000381502000001

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