title: Cloning and characterization of the human choroideremia gene.
abstract: Positional cloning has previously resulted in the identification of a gene which is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified in 4 exons of the 3' portion but not elsewhere in the CHM gene. We have now isolated and characterized the complete open reading frame of the CHM gene and determined its exon-intron structure. The CHM gene encodes a protein of 653 amino acids, which is highly homologous to the mouse and rat CHM proteins, and, to a slightly lesser extent, to the human CHM-like (CHML) protein. The open reading frame (ORF) of the human CHM gene consists of 15 exons, spanning at least 150 kb of Xq21.2, and it is possible that there is an additional exon corresponding to the 5' non-coding region of the gene. Cloning of the 5' end of the CHM gene and the elucidation of its intron-exon structure enabled us to localize the X-chromosomal breakpoint in a CHM female with an X;7 translocation between exons 3 and 4.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: J A
authors.initials: JA
authors.lastname: van den Hurk
authors.forename: L
authors.initials: L
authors.lastname: Bogerd
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: P
authors.initials: P
authors.lastname: de Jong
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D019883:Alkyl and Aryl Transferases; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D015794:Choroideremia / Q000235:genetics*; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D003001:Cloning, Molecular; D006224:Cricetinae; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D017384:Sequence Deletion; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*; D020691:rab GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human; C085460:CHML protein, human; D002352:Carrier Proteins; C513166:Chm protein, rat; C486217:Chml protein, mouse; D018076:DNA, Complementary; D019883:Alkyl and Aryl Transferases; D020691:rab GTP-Binding Proteins