Genes for the CPE Receptor (CPETR1) and the Human Homolog of RVP1 (CPETR2) Are Localized within the Williams–Beuren Syndrome Deletion

• Published in: Genomics (San Diego, Calif.) Vol. 54; no. 3; pp. 453 - 459
• Main Authors: Paperna, Tamar, Peoples, Risa, Wang, Yu-Ker, Kaplan, Paige, Francke, Uta
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 15.12.1998; Elsevier
• Subjects: 5' Untranslated Regions; Animals; Biological and medical sciences; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 7; Classical genetics, quantitative genetics, hybrids; Claudin-3; Claudin-4; Clostridium perfringens; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation, Developmental; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Introns; Male; Membrane Proteins; Mice; Mice, Inbred C57BL; Mice, Inbred Strains; Molecular Sequence Data; Proteins - genetics; Receptors, Cell Surface - genetics; Sequence Homology, Amino Acid; Tissue Distribution; Williams Syndrome - genetics; Genetic mapping; Human; Nucleotide sequence; Rodentia; Clostridiales; Critical region; Tissue specificity; Homology; Chromosome 5; Chromosome C7; Gene expression; Williams Beuren syndrome; Clostridium perfringens; Vertebrata; Membrane receptor; Mammalia; Mouse; Clostridiaceae; Enterotoxin; Bacteria
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1998.5619

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 perfringensenterotoxin 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 inCPETR1has been identified and was used to determine parental origin of the deleted allele in five informative families. The mouse homologsCpetr1andCpetr2were identified and mapped to the conserved syntenic region on mouse chromosome 5. Northern blot analysis ofCPETR1demonstrates tissue specificity, with expression in kidney, lung, thyroid, and gastrointestinal tissues. In mouse,Cpetr1is 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.