An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
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DOI：
10.1093/hmg/ddm293
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发表时间：
2007-12-15
影响因子：
3.5
通讯作者：
Filippova, Galina N.
中科院分区：
文献类型：
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作者：
Ladd, Paula D.;Smith, Leslie E.;Filippova, Galina N.
FMR1 基因 5'-UTR 内多态性 CGG 重复序列的扩展与 FMR1 的可变转录调控相关。在这里，我们报告了一个新基因 ASFMR1，它与 FMR1 的 CGG 重复区域重叠并以反义方向转录。 ASFMR1 转录物被剪接、聚腺苷酸化并输出到细胞质。与 FMR1 类似，ASFMR1 在具有前突变等位基因的个体中表达上调，并且在完全突变等位基因中不表达。此外，它还表现出前突变特异性的选择性剪接。综上所述，这些观察结果表明，除了 FMR1 之外，ASFMR1 也可能导致与 CGG 重复扩增相关的可变表型。
Expansion of the polymorphic CGG repeats within the 5'-UTR of the FMR1 gene is associated with variable transcriptional regulation of FMR1. Here we report a novel gene, ASFMR1, overlapping the CGG repeat region of FMR1 and transcribed in the antisense orientation. The ASFMR1 transcript is spliced, polyadenylated and exported to the cytoplasm. Similar to FMR1, ASFMR1 is upregulated in individuals with premutation alleles and is not expressed from full mutation alleles. Moreover, it exhibits premutation-specific alternative splicing. Taken together, these observations suggest that in addition to FMR1, ASFMR1 may contribute to the variable phenotypes associated with the CGG repeat expansion.