Sequence variability of a human pseudogene
Sequence variability of a human pseudogene
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DOI：
10.1101/gr.gr-1677rr
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发表时间：
2001-06-01
期刊：
影响因子：
7
通讯作者：
Bertranpetit, J
中科院分区：
文献类型：
--
作者：
Martínez-Arias, R;Calafell, F;Bertranpetit, J
我们已经获得了单倍型的常染色体葡萄糖脑苷脂酶假基因（psGBA）的100个人类染色体从世界各地的人口，以及四个黑猩猩和四个大猩猩染色体。在人类中，在5420个核苷酸的延伸分析，变异包括17个取代，3-bp缺失，和多聚腺嘌呤道的长度多态性。假基因上的替换率（1.23 +/- 0.22 x 10（-9）/核苷酸/年）在考虑系统发育估计的先前估计值范围内。假基因内的突变被确认，虽然这个位点的低变异性阻止了重组率的准确测量。至少13%的psGBA序列可归因于来自连续GBA基因的基因转换，而相反的事件已显示导致戈谢病。人类psGBA序列显示最近的合并时间（类似于20万年前），最古老的单倍型仅在非洲人中发现;这两种观察结果与人类起源的替代假说一致。在更深的时间范围内，系统发育分析表明，产生psGBA的重复事件可以追溯到2700万年前，与之前的估计一致。
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 (similar to 200,000 yr ago), acid 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 similar to 27 million years ago, in agreement with previous estimates.