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首页> 外文期刊>Genomics >A New Gene Family (FAM9) of Low-Copy Repeats in Xp22.3 Expressed Exclusively in Testis: Implications for Recombinations in This Region.
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A New Gene Family (FAM9) of Low-Copy Repeats in Xp22.3 Expressed Exclusively in Testis: Implications for Recombinations in This Region.

机译：Xp22.3中低拷贝重复的新基因家族（FAM9）仅在睾丸中表达：对该区域重组的影响。

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摘要

Illegitimate recombinations between low-copy repetitive elements (LCR) have been implicated in the pathogenesis of various chromosomal rearrangements. Two such duplicons have been reported previously on Xp22.3, the CRI-S232 elements, involved in the generation of deletions in the steroidsulfatase gene and five members of the G1.3 (DXF22S) repetitive sequence family. By molecular characterization of an Xp22/10q24 translocation, we identified one duplicon of the G1.3 family in the breakpoint region in Xp22.3. We show that G1.3 elements harbor at least three expressed genes, FAM9A, FAM9B, and FAM9C, and three putative pseudogenes, all mapped to Xp22.33-p22.31. The deduced amino acid sequence of the three novel proteins shows homology to SYCP3, a component of the synaptonemal complex located along the paired chromosomes during meiosis. FAM9A, FAM9B, and FAM9C are expressed exclusively in testis; their proteins are located in the nucleus, and FAM9A localizes to the nucleolus. The presence of genes within duplicons may represent putative recombination-promoting factors for actively transcribed genes in meiotic cells, with the resulting open chromatin structure facilitating unequal crossing-over events and chromosomal rearrangements.
机译：低拷贝重复元件（LCR）之间的非法重组已牵涉到各种染色体重排的发病机理中。先前已经在Xp22.3上报道了两个这样的双链体，即CRI-S232元件，参与了类固醇硫酸酯酶基因的缺失的产生以及G1.3（DXF22S）重复序列家族的五个成员。通过Xp22 / 10q24易位的分子表征，我们在Xp22.3的断点区域中发现了一个G1.3家族的双链体。我们显示，G1.3元素包含至少三个表达的基因，FAM9A，FAM9B和FAM9C，以及三个推定的假基因，都映射到Xp22.33-p22.31。推导的这三种新蛋白的氨基酸序列显示出与SYCP3的同源性，SYCP3是减数分裂过程中沿着配对染色体定位的突触复合物的组成部分。 FAM9A，FAM9B和FAM9C仅在睾丸中表达;它们的蛋白质位于细胞核中，而FAM9A则位于核仁中。双倍体中基因的存在可能代表减数分裂细胞中主动转录的基因的推定重组促进因子，产生的开放染色质结构促进不平等的交叉事件和染色体重排。

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