Associations between restriction site polymorphism and enzyme activity variation for esterase 6 in Drosophila melanogaster.
Associations between restriction site polymorphism and enzyme activity variation for esterase 6 in Drosophila melanogaster.
复制标题
果蝇中酯酶 6 的限制性位点多态性与酶活性变异之间的关联。
作者：
A. Y. Game;J. Oakeshott
从黑腹果蝇单个自然群体中提取的42个等位基因系中，在包括Est6基因座在内的21.5-KBP区域有35个核苷酸多态。每对核苷酸的杂合度估计为0.010，但在与转录本杂交的序列中低于不与转录本杂交的序列。在9个最常见的多态性中，36个配对比较中有11个显示出显著的配对不平衡。其中4个等位基因与EST6-F/EST6-S等位基因的主要多态显著相关。显著的不平衡通常局限于相距小于1-2 kBP的多态。以前报道的处女成年女性EST6活性的测量结果证明，EST6与位于EST6编码区或紧随其后的1.5KBP 5‘端的六个最常见的核苷酸多态中的任何一个都没有显著的关联。然而，位于1.5-kbp5‘区域的5个多态的11个单倍型可以解释先前报道的处女成年男性EST6活性和EST6蛋白含量的一半的变异。起始密码子的RsaI位点530bp5‘的一个特殊多态可以解释21%的雄性品系间的活动差异。这个位点嵌入在一个大的回文中，我们认为包括或接近这个位点的序列可能参与了成年男性射精管中EST6合成的调节。
Thirty-five nucleotide polymorphisms were found in a 21.5-kbp region including the Est6 locus among 42 isoallelic lines extracted from a single natural population of Drosophila melanogaster. The heterozygosity per nucleotide pair was estimated to be 0.010 overall, but was lower in sequences hybridizing to transcripts than in those not hybridizing to transcripts. Eleven of 36 pairwise comparisons among the nine most common polymorphisms showed significant gametic disequilibrium. Four of these polymorphisms were also significantly associated with the major EST6-F/EST6-S allozyme polymorphism. Significant disequilibrium was generally restricted to polymorphisms less than 1-2 kbp apart. Previously reported measures of EST6 activity in virgin adult females proved not to be significantly associated with any of the six most common nucleotide polymorphisms located in the Est6 coding region or the 1.5 kbp immediately 5'. However, the 11 haplotypes for five of these polymorphisms that lie in the 1.5-kbp 5' region could explain about half of the previously reported variation among the lines for both EST6 activity and the amount of EST6 protein in virgin adult males. One particular polymorphism, for a RsaI site 530 bp 5' of the initiation codon, could explain 21% of the male activity variation among lines. This site is embedded in a large palindrome and we suggest that sequences including or close to this site may be involved in the regulation of EST6 synthesis in the ejaculatory duct of the adult male.
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