Schaeffer S W, Aquadro C F
Laboratory of Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709.
Genetics. 1987 Sep;117(1):61-73. doi: 10.1093/genetics/117.1.61.
The alcohol dehydrogenase (Adh) locus (ADH; alcohol: NAD+ oxidoreductase, EC 1.1.1.1) of Drosophila pseudoobscura was cloned and sequenced. Forty-five percent of the "effectively silent sites" have changed between Adh in D. pseudoobscura of the obscura species group and the homologous DNA sequence in D. mauritiana, the latter representing the melanogaster species group. The untranslated leader sequence of the adult transcript of D. pseudoobscura has two deletions relative to the D. mauritiana message. The ADH protein sequences of D. pseudoobscura is missing the third and fourth amino acids at the N-terminus relative to the D. mauritiana enzyme. Of the remaining 254 amino acid positions, 27 (10.64%) differ between the two species. Amino acid replacements are randomly distributed into hydrophilic and hydrophobic domains of ADH. However, replacement substitutions are distributed nonrandomly across the three exons among D. pseudoobscura and members of the melanogaster subgroup, suggesting that functional constraints across the exons are different. Surprisingly, silent substitutions are also nonrandomly distributed with the third exon being the most divergent. This pattern suggests possible selective constraints on supposedly neutral silent substitutions and/or variation in underlying mutation rates across the gene. The presence of transcriptional and translational signals at the beginning and end of conserved sequences 3' to Adh implies the existence of a previously undescribed gene. Codon usage and patterns of nucleotide divergence are consistent with a protein coding function for this gene. In addition, conservation of nucleotide and amino acid sequence and similarity in hydropathy plots suggests that the gene 3' to Adh represents an ancient duplication of the Adh gene.
克隆并测序了拟暗果蝇的乙醇脱氢酶(Adh)基因座(ADH;乙醇:NAD+氧化还原酶,EC 1.1.1.1)。在 obscura 物种组的拟暗果蝇中的 Adh 与毛里求斯果蝇(代表黑腹果蝇物种组)的同源 DNA 序列之间,45%的“有效沉默位点”发生了变化。相对于毛里求斯果蝇的转录本,拟暗果蝇成虫转录本的非翻译前导序列有两个缺失。相对于毛里求斯果蝇的酶,拟暗果蝇的 ADH 蛋白序列在 N 端缺少第三和第四个氨基酸。在其余 254 个氨基酸位置中,两个物种之间有 27 个(10.64%)不同。氨基酸替换随机分布在 ADH 的亲水和疏水结构域中。然而,在拟暗果蝇和黑腹果蝇亚组成员之间,替换替代在三个外显子上的分布是非随机的,这表明外显子上的功能限制是不同的。令人惊讶的是,沉默替代也非随机分布,第三个外显子差异最大。这种模式表明对假定的中性沉默替代可能存在选择性限制和/或整个基因潜在突变率的变化。Adh 下游保守序列开始和结束处存在转录和翻译信号,这意味着存在一个以前未描述的基因。密码子使用和核苷酸分歧模式与该基因的蛋白质编码功能一致。此外,核苷酸和氨基酸序列的保守性以及亲水性图谱的相似性表明,Adh 下游的基因代表了 Adh 基因的古老复制。