Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.
Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.
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人类红色和绿色视蛋白基因的单倍型多样性：外显子 3 中频繁序列交换的证据。
DOI：
10.1093/hmg/2.9.1413
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发表时间：
1993
影响因子：
3.5
通讯作者：
Deeb,SS
中科院分区：
文献类型：
--
作者：
Winderickx,J;Battisti,L;Hibiya,Y;Motulsky,AG;Deeb,SS
我们研究了 133 名白人男性的人类红色和绿色视蛋白基因编码序列的多态性。在红色视蛋白基因中发现了 11 个多态性位点，其中 7 个位于外显子 3，3 个位于外显子 4，1 个位于外显子 5。其中 8 个位点的多态性导致氨基酸取代，从而在群体中产生了总共 18 种独特的红色视蛋白。 8 个位点中的 3 个位点（S180A、I230T 和 A233S）的取代涉及带羟基的非极性氨基酸残基，因此可能会改变红色颜料的光谱特性。在绿色视蛋白编码序列中观察到 8 个多态性位点，其中 6 个位于外显子 3 中，1 个位于外显子 2 中，1 个位于外显子 5 中。八个涉及氨基酸替换中的 5 个在群体中产生了 15 个独特的绿色视蛋白。其中两个位点的取代涉及带有羟基的残基与非极性残基。红色和绿色视蛋白基因共有六个多态性，所有这些多态性都位于外显子 3 中，这使得很难将该外显子分配给这些基因中的任何一个。外显子 3 中的标记与外显子 4 和 5 中的标记处于部分连锁不平衡，而后两者彼此之间处于强连锁不平衡。此外，外显子 3 5' 区域中的标记也与 3' 区域中的标记仅部分 (54%) 不平衡。上述结果强烈表明，在导致人类红色和绿色视蛋白基因的谱系中，有频繁基因转换的历史，主要位于外显子3。在外显子三中发现的奇序列元件可能介导了这种局部基因转换。
We studied polymorphisms In the coding sequences of the human red and green opsin genes of 133 Caucasian males. Eleven polymorphic sites were discovered In the red opsin gene, seven of which were in exon 3, three In exon 4 and one In exon 5. Polymorphisms at 8 of these sites resulted In amino acid substitutions which generated a total of 18 unique red opsins In the population. The substitutions at three (S180A, I230T, and A233S) of the 8 sites Involve hydroxyl-bearing to non-polar amino acid residues, and are therefore likely to alter spectral characteristics of the red pigment. Eight polymorphic sites were observed In the green opsin coding sequences, six of which were In exon 3, one In exon 2 and one In exon 5. Five of the eight Involved amino acid substitutions which generated 15 unique green opslns In the population. Substitutions at two of these sites Involve hydroxyl-bearing vs. non-polar residues. Six polymorphisms, all of which are located In exon 3, are shared between the red and green opsin genes, essentially making it difficult to assign this exon to either of these genes. Markers In exon 3 are In partial linkage disequillbrium with those In exons 4 and 5, whereas the latter two are in strong linkage disequillbrium with each other. Furthermore, markers In the 5' region of exon 3 are also In only partial (54%) disequillbrium with those In the 3' region. The above results strongly suggest a history of frequent gene conversion, mainly localized to exon 3, In the lineages leading to the human red and green opsin genes. A chisequence element found In exon three may have mediated this localized gene conversion.