在人类基因内重组phosphoglucomutase 1轨迹:预言实现。
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高桥N,奈尔的合资企业
在人类基因内重组phosphoglucomutase 1轨迹:预言实现。
《美国国家科学院刊S a . 1993年11月15日,90 (22):10725 - 9。
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7902567 (在PubMed]
- 文摘
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在1982年,我们先进的发展史,认为八phosphoglucomutase 1位点的等位基因(PGM1)三个独立在原始的等位基因突变,紧随其后的是四个基因内重组事件涉及这些突变体(高桥,N。奈尔,j . V。佐藤晴,C。,j . & Masunari Nishizaki n (1982) Proc。国家的。学会科学。美国79年,6636 - 6640]。最近描述轨迹的cDNA探针(怀特豪斯,d . B。推杆,W。Lovegrove, j . U。莫里森,K。Hollyoake, M。福克斯,m F。霍普金森,d . a &爱德华兹黄懿慧(1992)Proc。国家的。学会科学。美国89年,411 - 415]现在显示它可以测试这个系统的有效性。 cDNAs of PGM1 reverse-transcribed from mRNAs obtained from Japanese individuals possessing eight different electrophoretically defined alleles (PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+, PGM1*7-) were amplified by PCR and the sequences were determined. Only three different base substitutions were identified when PGM1*1+ was taken as the reference allele, as follows: an A to T transversion at residue 265, a C to T transition at residue 723, and a T to C transition at residue 1320. The second of these substitutions creates a Bgl II restriction enzyme site and the third creates a Nla III site. At the amino acid level, these substitutions alter amino acid 67 from Lys to Met, amino acid 220 from Arg to Cys, and amino acid 419 from Tyr to His, respectively. These mutations resulted in the electrophoretic properties defining PGM1*7+, the PGM1*2+, and the PGM1*1- alleles, respectively. Subsequent intragenic recombinational events resulted in the remaining four alleles. For two of these latter alleles (PGM1*7- and PGM1*3-), more than one type of intragenic crossover can produce the allele. These findings verify the predicted phylogeny and provide a case study in the evolution of complexity at a genetic locus.