Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene.

R L Prueitt, J L Ross, A R Zinn
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引用次数: 92

Abstract

Women with balanced translocations between the long arm of the X chromosome (Xq) and an autosome frequently suffer premature ovarian failure (POF). Two "critical regions" for POF which extend from Xq13-->q22 and from Xq22-->q26 have been identified using cytogenetics. To gain insight into the mechanism(s) responsible for ovarian failure in women with X;autosome translocations, we have molecularly characterized the translocation breakpoints of nine X chromosomes. We mapped the breakpoints using somatic cell hybrids retaining the derivative autosome and densely spaced markers from the X-chromosome physical map. One of the POF-associated breakpoints in a critical region (Xq25) mapped to a sequenced PAC clone. The translocation disrupts XPNPEP2, which encodes an Xaa-Pro aminopeptidase that hydrolyzes N-terminal Xaa-Pro bonds. XPNPEP2 mRNA was detected in fibroblasts that carry the translocation, suggesting that this gene at least partially escapes X inactivation. Although the physiologic substrates for the enzyme are not known, XPNPEP2 is a candidate gene for POF. Our breakpoint mapping data will help to identify additional candidate POF genes and to delineate the Xq POF critical region(s).

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9个Xq易位断点的物理定位和XPNPEP2作为卵巢早衰候选基因的鉴定。
在X染色体长臂(Xq)和常染色体之间有平衡易位的女性经常患卵巢早衰(POF)。POF的两个“关键区域”从Xq13- >q22和从Xq22- >q26已经通过细胞遗传学鉴定。为了深入了解X常染色体易位女性卵巢功能衰竭的机制,我们对9条X染色体的易位断点进行了分子表征。我们使用体细胞杂交种绘制断点,保留了衍生常染色体和来自x染色体物理图谱的密集间隔标记。关键区域(Xq25)中与pof相关的断点之一映射到已测序的PAC克隆。这种易位破坏了XPNPEP2,它编码一种能水解n端Xaa-Pro键的Xaa-Pro氨基肽酶。在携带易位的成纤维细胞中检测到XPNPEP2 mRNA,表明该基因至少部分逃脱了X失活。虽然该酶的生理底物尚不清楚,但XPNPEP2是POF的候选基因。我们的断点定位数据将有助于识别额外的候选POF基因,并描绘Xq POF关键区域。
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