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PMID: 11381033 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Sequence variability of a human pseudogene.

Genome research ·Vol. 11 ·No. 6 ·2001-06-00 ·Pages 1071-85

Martínez-Arias R, Calafell F, Mateu E, Comas D, Andrés A, Bertranpetit J

Abstract

We have obtained haplotypes from the autosomal glucocerebrosidase pseudogene (psGBA) for 100 human chromosomes from worldwide populations, as well as for four chimpanzee and four gorilla chromosomes. In humans, in a 5420-nucleotide stretch analyzed, variation comprises 17 substitutions, a 3-bp deletion, and a length polymorphism at a polyadenine tract. The substitution rate on the pseudogene (1.23 +/- 0.22 x 10(-9) per nucleotide and year) is within the range of previous estimates considering phylogenetic estimations. Recombination within the pseudogene was recognized, although the low variability of this locus prevented an accurate measure of recombination rates. At least 13% of the psGBA sequence could be attributed to gene conversion from the contiguous GBA gene, whereas the reciprocal event has been shown to lead to Gaucher disease. Human psGBA sequences showed a recent coalescence time (approximately 200,000 yr ago), and the most ancestral haplotype was found only in Africans; both observations are compatible with the replacement hypothesis of human origins. In a deeper timeframe, phylogenetic analysis showed that the duplication event that created psGBA could be dated at approximately 27 million years ago, in agreement with previous estimates.

MeSH Terms
Animals Evolution, Molecular Gene Conversion/genetics Genetic Markers/genetics Genetic Variation/genetics Glucosylceramidase/genetics Gorilla gorilla Haplotypes/genetics Humans Molecular Sequence Data Mutation/genetics Pan troglodytes Phylogeny Polymorphism, Genetic/genetics Pseudogenes/genetics Recombination, Genetic/genetics Sequence Homology, Nucleic Acid
Chemicals
Genetic Markers Glucosylceramidase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Martínez-Arias R
Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
Calafell F
Mateu E
Comas D
Andrés A
Bertranpetit J
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Article Info
Journal
Genome research
Abbr.
Genome Res
ISSN
1088-9051
DOI
10.1101/gr.167701
Published
2001-06-00
Pages
1071-85
Language
English
Region
United States
NLM ID
9518021
PMCID
PMC311081
Subset
IM
Databases
GENBANK
AF267177, AF272641, AF272642, AF285236
External Links
PubMed source DOI: 10.1101/gr.167701 PMC Full Text View journal details
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