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Pax6 调控晶体蛋白基因的进化起源。

Evolutionary Origins of Pax6 Control of Crystallin Genes.

机构信息

Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, Bronx, New York.

Department of Genetics, Albert Einstein College of Medicine, Bronx, New York.

出版信息

Genome Biol Evol. 2017 Aug 1;9(8):2075-2092. doi: 10.1093/gbe/evx153.

Abstract

The birth of novel genes, including their cell-specific transcriptional control, is a major source of evolutionary innovation. The lens-preferred proteins, crystallins (vertebrates: α- and β/γ-crystallins), provide a gateway to study eye evolution. Diversity of crystallins was thought to originate from convergent evolution through multiple, independent formation of Pax6/PaxB-binding sites within the promoters of genes able to act as crystallins. Here, we propose that αB-crystallin arose from a duplication of small heat shock protein (Hspb1-like) gene accompanied by Pax6-site and heat shock element (HSE) formation, followed by another duplication to generate the αA-crystallin gene in which HSE was converted into another Pax6-binding site. The founding β/γ-crystallin gene arose from the ancestral Hspb1-like gene promoter inserted into a Ca2+-binding protein coding region, early in the cephalochordate/tunicate lineage. Likewise, an ancestral aldehyde dehydrogenase (Aldh) gene, through multiple gene duplications, expanded into a multigene family, with specific genes expressed in invertebrate lenses (Ω-crystallin/Aldh1a9) and both vertebrate lenses (η-crystallin/Aldh1a7 and Aldh3a1) and corneas (Aldh3a1). Collectively, the present data reconstruct the evolution of diverse crystallin gene families.

摘要

新基因的诞生,包括其细胞特异性转录调控,是进化创新的主要来源。晶状体特异蛋白(脊椎动物:α-和β/γ-晶状体蛋白)为研究眼睛进化提供了一个切入点。晶状体蛋白的多样性被认为起源于趋同进化,通过在能够作为晶状体蛋白的基因启动子中多次独立形成 Pax6/PaxB 结合位点,从而产生了多样化的晶状体蛋白。在这里,我们提出αB-晶状体蛋白是由小热休克蛋白(Hspb1 样)基因的复制产生的,伴随着 Pax6 结合位点和热休克元件(HSE)的形成,随后又发生了另一次复制,产生了αA-晶状体蛋白基因,其中 HSE 被转化为另一个 Pax6 结合位点。β/γ-晶状体蛋白的起源基因是从祖先的 Hspb1 样基因启动子插入到钙结合蛋白编码区,在头索动物/被囊动物谱系的早期产生的。同样,一个祖先的醛脱氢酶(Aldh)基因通过多次基因复制,扩展成一个多基因家族,其中特定的基因在无脊椎动物晶状体(Ω-晶状体蛋白/Aldh1a9)和脊椎动物晶状体(η-晶状体蛋白/Aldh1a7 和 Aldh3a1)和角膜(Aldh3a1)中表达。总的来说,目前的数据重建了不同晶状体蛋白基因家族的进化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1856/5737492/acb5eff01c2b/evx153f1.jpg

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