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Comparative genomic sequence analysis of the FXR gene family: FMR1, FXR1, and FXR2.

机译:FXR基因家族的比较基因组序列分析:FMR1,FXR1和FXR2。

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Mutations in the X-linked gene FMR1 cause fragile X syndrome, the leading cause of inherited mental retardation. Two autosomal paralogs of FMR1 have been identified, and are known as FXR1 and FXR2. Here we describe and compare the genomic structures of the mouse and human genes FMR1, FXR1, and FXR2. All three genes are very well conserved from mouse to human, with identical exon sizes for all but two FXR2 exons. In addition, the three genes share a conserved gene structure, suggesting they are derived from a common ancestral gene. As a first step towards exploring this hypothesis, we reexamined the Drosophila melanogaster gene Fmr1, and found it to have several of the same intron/exon junctions as the mammalian FXRs. Finally, we noted several regions of mouse/human homology in the noncoding portions of FMR1 and FXR1. Knowledge of the genomic structure and sequence of the FXR family of genes will facilitate further studies into the function of these proteins.
机译:X连锁基因FMR1中的突变会导致脆弱的X综合征,这是遗传性智力低下的主要原因。已鉴定出FMR1的两个常染色体旁系同源物,称为FXR1和FXR2。在这里,我们描述并比较了小鼠和人类基因FMR1,FXR1和FXR2的基因组结构。这三个基因从小鼠到人类都非常保守,除了两个FXR2外显子外,其他三个外显子的大小均相同。另外,这三个基因共享保守的基因结构,表明它们来自共同的祖先基因。作为探索这一假设的第一步,我们重新检查了果蝇果蝇基因Fmr1,发现它具有与哺乳动物FXR相同的几个内含子/外显子连接。最后,我们注意到FMR1和FXR1的非编码部分中的小鼠/人类同源性的几个区域。 FXR基因家族的基因组结构和序列的知识将有助于进一步研究这些蛋白质的功能。

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