title: Is the Duchenne muscular dystrophy gene also an X-linked retinitis pigmentosa locus?
abstract: Deletion mutations and linkage mapping have localized an X-linked retinitis pigmentosa locus to Xp21, and a disease gene (RPGR) has been characterized. However, mutations have not been identified in most families expected to segregate the disease at this locus. Here, a retina-specific mRNA transcript from the Duchenne muscular dystrophy gene is identified. Based on these data, it is hypothesized that the Duchenne muscular dystrophy gene may represent a second Xp21 site at which retinitis pigmentosa mutations occur.
authors.affiliation: Department of Pediatrics, University of California, Los Angeles 90095, USA.
authors.forename: J K
authors.initials: JK
authors.lastname: Phelan
authors.forename: D
authors.initials: D
authors.lastname: Bok
mesh_terms: D000818:Animals; D015152:Blotting, Northern; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012160:Retina / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D012333:RNA, Messenger