Cloning and characterization of the human choroideremia gene
| Autor: | Frans P.M. Cremers, José A. J. M. van den Hurk, Hans-Hilger Ropers, Christophe Philippe, Liesbeth Bogerd, Pieter J. de Jong, Hans van Bokhoven, Simone Gilgenkrantz |
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| Rok vydání: | 1994 |
| Předmět: |
Male
DNA Complementary X Chromosome Positional cloning Molecular Sequence Data Biology Hybrid Cells Homology (biology) Translocation Genetic Exon Open Reading Frames Complementary DNA Cricetinae Genetics Animals Humans Amino Acid Sequence Cloning Molecular Molecular Biology Gene Genetics (clinical) Adaptor Proteins Signal Transducing Sequence Deletion Alkyl and Aryl Transferases Base Sequence Chromosomes Human Pair 13 Intron Nucleic acid sequence Chromosome Mapping General Medicine Exons Molecular biology Introns Open reading frame Genes rab GTP-Binding Proteins Female Carrier Proteins Choroideremia Chromosomes Human Pair 7 |
| Zdroj: | Human molecular genetics. 3(7) |
| ISSN: | 0964-6906 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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