RT Journal
A1 Martínez-Arias, Rosa
A1 Calafell, Francesc
A1 Mateu, Eva
A1 Comas, David
A1 Andrés, Aida
A1 Bertranpetit, Jaume
T1 Sequence Variability of a Human Pseudogene
JF Genome Research 
JO Genome Research 
YR 2001 
FD June 01 
VO 11 
IS 6 
SP 1071 
OP 1085 
DO 10.1101/gr.167701 
UL http://genome.cshlp.org/content/11/6/1071.abstract 
AB 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 × 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 psGBAsequence could be attributed to gene conversion from the contiguousGBA gene, whereas the reciprocal event has been shown to lead to Gaucher disease. Human psGBA sequences showed a recent coalescence time (∼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 ∼27 million years ago, in agreement with previous estimates.