Divergence, demography and gene loss along the human lineage.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Kim, Hie Lim; Igawa, Takeshi; Kawashima, Ayaka; Satta, Yoko; Takahata, Naoyuki
Year of Publication: 2010
Journal: Philos Trans R Soc Lond B Biol Sci
Volume: 365
Issue: 1552
Pagination: 2451-7
Date Published: 2010 Aug 27
Publication Language: eng
ISSN: 1471-2970
Keywords: Animals, Biological Evolution, Evolution, Molecular, Founder Effect, Genetics, Population, Humans, Likelihood Functions, Markov Chains, Models, Genetic, Monte Carlo Method, Population Dynamics, Primates, Pseudogenes, Sequence Analysis, DNA, Species Specificity

Genomic DNA sequences are an irreplaceable source for reconstructing the vanished past of living organisms. Based on updated sequence data, this paper summarizes our studies on species divergence time, ancient population size and functional loss of genes in the primate lineage leading to modern humans (Homo sapiens sapiens). The inter- and intraspecific comparisons of DNA sequences suggest that the human lineage experienced a rather severe bottleneck in the Middle Pleistocene, throughout which period the subdivided African population played a predominant role in shaping the genetic architecture of modern humans. Also, published and newly identified human-specific pseudogenes (HSPs) are enumerated in order to infer their significance for human evolution. Of the 121 candidate genes obtained, authentic HSPs turn out to comprise only 25 olfactory receptor genes, four T cell receptor genes and nine other genes. The fixation of HSPs has been too rare over the past 6-7 Myr to account for species differences between humans and chimpanzees.

DOI: 10.1098/rstb.2010.0004
Alternate Journal: Philos. Trans. R. Soc. Lond., B, Biol. Sci.