title: No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles.
abstract: The DNA sequences of a Japanese and a Venezuelan apolipoprotein (apo) C-II deficiency allele, of a normal Japanese apo C-II gene, and of a chimpanzee apo C-II gene were amplified by PCR, and their nucleotide sequences were determined on multiple clones of the PCR products. The normal Japanese sequence is identical to--and the chimpanzee sequence differs by only three nucleotides from--a previously published normal Caucasian sequence. In contrast, the two human mutant sequences each differ from the normal apo C-II gene sequence by several nucleotides, including deletions. The data suggest that both mutant alleles arose greater than 500,000 years ago. It is shown that a defective allele can persist in a population for only a short time if a bottleneck occurs. Therefore, the antiquity of the two alleles suggests no severe bottleneck during human evolution. Moreover, the fact that one allele is from Japan and the other is from a Venezuelan Caucasian family is more consistent with the multiregional evolution model of modern human origins than with the complete replacement or "out of Africa" model.
authors.affiliation: Department of Medicine, Baylor College of Medicine, Houston, TX.
authors.forename: W J
authors.initials: WJ
authors.lastname: Xiong
authors.forename: W H
authors.initials: WH
authors.lastname: Li
authors.forename: I
authors.initials: I
authors.lastname: Posner
authors.forename: T
authors.initials: T
authors.lastname: Yamamura
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
authors.forename: A M
authors.initials: AM
authors.lastname: Gotto
authors.forename: L
authors.initials: L
authors.lastname: Chan
mesh_terms: D000483:Alleles; D000818:Animals; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D005075:Biological Evolution; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D002679:Pan troglodytes; D016133:Polymerase Chain Reaction; D044469:Racial Groups / Q000235:genetics
chemical_list: D053304:Apolipoprotein C-II; D001056:Apolipoproteins C