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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
van Bokhoven H,van den Hurk JA,Bogerd L,Philippe C,Gilgenkrantz S,de Jong P,Ropers HH,Cremers FPdoi
10.1093/hmg/3.7.1041subject
Has Abstractpub_date
1994-07-01 00:00:00pages
1041-6issue
7eissn
0964-6906issn
1460-2083journal_volume
3pub_type
杂志文章abstract::Even though autoimmune diseases are heterogeneous, believed to result from the interaction between genetic and environmental components, patients with these disorders exhibit reproducible patterns of gene expression in their peripheral blood mononuclear cells. A portion of this gene expression profile is a property of...
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