Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2)are localized within the Williams-Beuren syndrome deletion

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder affecting m ultiple systems. Haplo-insufficiency of genes deleted in chromosomal; regio n 7q11.23 is the likely cause for this syndrome. We now report the localiza tion of the genes for the CPE-R (Clostridium perfringens enterotoxin recept or, CPETR1) and the human homolog of RVP1 (rat ventral prostate 1 protein, CPETR2), both previously mapped to 7q11, to the WBS critical region. A sing le nucleotide polymorphism (SNP) present in CPETR1 has been identified and was used to determine parental origin of the deleted allele in five informa tive families. The mouse homologs Cpetr1 and Cpetr2 were identified and map ped to the conserved syntenic region on mouse chromosome 5. Northern blot a nalysis of CPETR1 demonstrates tissue specificity, with expression in kidne y, lung; thyroid, and gastrointestinal tissues. In mouse, Cpetr1 is express ed in the early embryo, appears to be developmentally upregulated during ge station, and is present in adult tissues. Our results suggest a role for CP E-R in internal organ development and function during pre- and postnatal li fe. (C) 1998 Academic Press.