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Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
Nat Genet. 2000 Aug; 25(4):427-30.NGen

Abstract

Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an immunoglobulin (Ig)-related transmembrane cell-cell adhesion molecule that is part of the NAP cell adhesion system. Nectin-1 is also the principal cell surface receptor for alpha-herpesviruses (HveC; ref. 7), and the high frequency of CLPED1 on Margarita Island in the Caribbean Sea might result from resistance of heterozygotes to infection by these viruses.

Authors+Show Affiliations

Suzuki K
Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA.
Hu D
No affiliation info available
Bustos T
No affiliation info available
Zlotogora J
No affiliation info available
Richieri-Costa A
No affiliation info available
Helms JA
No affiliation info available
Spritz RA
No affiliation info available

MeSH

Amino Acid SequenceAnimalsBase SequenceCell Adhesion MoleculesCleft LipCleft PalateDNADNA Mutational AnalysisEctodermal DysplasiaEmbryo, MammalianFrameshift MutationGene Expression Regulation, DevelopmentalGenesHomozygoteHumansIn Situ HybridizationMiceMice, Inbred C3HMolecular Sequence DataMutationNectinsRNA, Messenger

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

10932188

Citation

Suzuki, K, et al. "Mutations of PVRL1, Encoding a Cell-cell Adhesion Molecule/herpesvirus Receptor, in Cleft Lip/palate-ectodermal Dysplasia." Nature Genetics, vol. 25, no. 4, 2000, pp. 427-30.
Suzuki K, Hu D, Bustos T, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000;25(4):427-30.
Suzuki, K., Hu, D., Bustos, T., Zlotogora, J., Richieri-Costa, A., Helms, J. A., & Spritz, R. A. (2000). Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nature Genetics, 25(4), 427-30.
Suzuki K, et al. Mutations of PVRL1, Encoding a Cell-cell Adhesion Molecule/herpesvirus Receptor, in Cleft Lip/palate-ectodermal Dysplasia. Nat Genet. 2000;25(4):427-30. PubMed PMID: 10932188.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. AU - Suzuki,K, AU - Hu,D, AU - Bustos,T, AU - Zlotogora,J, AU - Richieri-Costa,A, AU - Helms,J A, AU - Spritz,R A, PY - 2000/8/10/pubmed PY - 2000/9/2/medline PY - 2000/8/10/entrez SP - 427 EP - 30 JF - Nature genetics JO - Nat Genet VL - 25 IS - 4 N2 - Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify as PVRL1, encoding nectin-1, an immunoglobulin (Ig)-related transmembrane cell-cell adhesion molecule that is part of the NAP cell adhesion system. Nectin-1 is also the principal cell surface receptor for alpha-herpesviruses (HveC; ref. 7), and the high frequency of CLPED1 on Margarita Island in the Caribbean Sea might result from resistance of heterozygotes to infection by these viruses. SN - 1061-4036 UR - https://wwww.unboundmedicine.com/medline/citation/10932188/Mutations_of_PVRL1_encoding_a_cell_cell_adhesion_molecule/herpesvirus_receptor_in_cleft_lip/palate_ectodermal_dysplasia_ L2 - https://doi.org/10.1038/78119 DB - PRIME DP - Unbound Medicine ER -