Fate of a redundant gamma-globin gene in the atelid clade of New World monkeys: implications concerning fetal globin gene expression.
Fate of a redundant gamma-globin gene in the atelid clade of New World monkeys: implications concerning fetal globin gene expression.
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新世界猴的atelid分支中冗余的γ-珠蛋白基因的命运：对胎儿珠蛋白基因表达的影响。
DOI：
10.1073/pnas.92.7.2607
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发表时间：
1995
影响因子：
11.1
通讯作者：
Goodman,M
中科院分区：
文献类型：
--
作者：
Meireles,CM;Schneider,MP;Sampaio,MI;Schneider,H;Slightom,JL;Chiu,CH;Neiswanger,K;Gumucio,DL;Czelusniak,J;Goodman,M
确凿的证据表明，位于两个相连的类人猿γ -珠蛋白位点（5'- γ 1- γ 2-3'）上游的γ - 1是新大陆猴主要群体中的假基因。对pcr扩增的预测大小的基因组片段的序列分析显示，所有现存的platyrrhine家族Atelidae [Lagothrix（长毛猴），Brachyteles（长毛蜘蛛猴），Ateles（蜘蛛猴）和Alouatta（吼叫猴）]的属都有一个大的缺失，删除了大部分外显子2，所有内含子2和外显子3，以及大部分3'侧序列γ 1。事实上，在Atelidae的早期祖先中不存在两个功能性的γ -珠蛋白基因（而γ - 1是不可缺少的基因），这表明在它们的大部分甚至全部进化过程中，platyrines将γ - 2作为主要的胎儿表达的γ -珠蛋白基因，而carrines（例如人类和黑猩猩）则将γ - 1作为主要的胎儿表达的γ -珠蛋白基因。启动子序列的结果进一步表明，所有三个platyrrhine家族（Atelidae， Cebidae和piciciidae）都以gamma 2而不是gamma 1作为其主要的胎儿表达γ -球蛋白基因。研究人员从基因冗余、调控突变和每个γ -珠蛋白基因与基因座控制区的距离如何可能参与胎儿而非胚胎表达的获得和维持等方面探讨了这一建议的含义。
Conclusive evidence was provided that gamma 1, the upstream of the two linked simian gamma-globin loci (5'-gamma 1-gamma 2-3'), is a pseudogene in a major group of New World monkeys. Sequence analysis of PCR-amplified genomic fragments of predicted sizes revealed that all extant genera of the platyrrhine family Atelidae [Lagothrix (woolly monkeys), Brachyteles (woolly spider monkeys), Ateles (spider monkeys), and Alouatta (howler monkeys)] share a large deletion that removed most of exon 2, all of intron 2 and exon 3, and much of the 3' flanking sequence of gamma 1. The fact that two functional gamma-globin genes were not present in early ancestors of the Atelidae (and that gamma 1 was the dispensible gene) suggests that for much or even all of their evolution, platyrrhines have had gamma 2 as the primary fetally expressed gamma-globin gene, in contrast to catarrhines (e.g., humans and chimpanzees) that have gamma 1 as the primary fetally expressed gamma-globin gene. Results from promoter sequences further suggest that all three platyrrhine families (Atelidae, Cebidae, and Pitheciidae) have gamma 2 rather than gamma 1 as their primary fetally expressed gamma-globin gene. The implications of this suggestion were explored in terms of how gene redundancy, regulatory mutations, and distance of each gamma-globin gene from the locus control region were possibly involved in the acquisition and maintenance of fetal, rather than embryonic, expression.