Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
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DOI：
10.1006/geno.1998.5619
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发表时间：
1998-12
期刊：
影响因子：
4.4
通讯作者：
T. Paperna;R. Peoples;Yu-Ker Wang;P. Kaplan;U. Francke
中科院分区：
文献类型：
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作者：
T. Paperna;R. Peoples;Yu-Ker Wang;P. Kaplan;U. Francke
Williams-Beuren综合征（WBS）是一种影响多系统的神经发育障碍。染色体7q11.23区域缺失基因的单倍不足可能是导致该综合征的原因。我们现在报道了CPE-R（产气荚膜梭菌肠毒素受体，CPETR1）和RVP1（大鼠腹侧前列腺1蛋白，CPETR2）的人类同源基因的定位，这两个基因之前都定位于7q11，在WBS关键区域。CPETR1中存在的单核苷酸多态性（SNP）已被鉴定，并用于确定五个信息性家庭中缺失等位基因的亲本起源。小鼠同源物Cpetr1和Cpetr2被鉴定并定位到小鼠5号染色体上的保守共链区域。Northern blot分析显示CPETR1具有组织特异性，在肾脏、肺、甲状腺和胃肠道组织中均有表达。在小鼠中，Cpetr1在早期胚胎中表达，在妊娠期间出现发育上调，并存在于成年组织中。我们的研究结果表明，CPE-R在产前和产后的内部器官发育和功能中起着重要作用。
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder affecting multiple systems. Haploinsufficiency of genes deleted in chromosomal region 7q11.23 is the likely cause for this syndrome. We now report the localization of the genes for the CPE-R (Clostridium perfringens enterotoxin receptor, CPETR1) and the human homolog of RVP1 (rat ventral prostate 1 protein, CPETR2), both previously mapped to 7q11, to the WBS critical region. A single nucleotide polymorphism (SNP) present in CPETR1 has been identified and was used to determine parental origin of the deleted allele in five informative families. The mouse homologs Cpetr1 and Cpetr2 were identified and mapped to the conserved syntenic region on mouse chromosome 5. Northern blot analysis of CPETR1 demonstrates tissue specificity, with expression in kidney, lung, thyroid, and gastrointestinal tissues. In mouse, Cpetr1 is expressed in the early embryo, appears to be developmentally upregulated during gestation, and is present in adult tissues. Our results suggest a role for CPE-R in internal organ development and function during pre- and postnatal life.