title: Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
abstract: 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.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA.
authors.forename: T
authors.initials: T
authors.lastname: Paperna
authors.forename: R
authors.initials: R
authors.lastname: Peoples
authors.forename: Y K
authors.initials: YK
authors.lastname: Wang
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
authors.forename: U
authors.initials: U
authors.lastname: Francke
mesh_terms: D020121:5' Untranslated Regions; D000818:Animals; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D062465:Claudin-3; D062506:Claudin-4; D005260:Female; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007438:Introns; D008297:Male; D008565:Membrane Proteins; D051379:Mice; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C568122:CLDN3 protein, human; C568157:CLDN4 protein, human; D062465:Claudin-3; D062506:Claudin-4; C568123:Cldn3 protein, mouse; C568124:Cldn3 protein, rat; C568158:Cldn4 protein, mouse; D008565:Membrane Proteins; D011506:Proteins; D011956:Receptors, Cell Surface; C105422:Clostridium perfringens enterotoxin receptor