title: Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.
abstract: Retinitis pigmentosa (RP) is the most common form of retinal dystrophy. It is featured by a great clinical and genetic heterogeneity. Different patterns of inheritance exist, such as autosomal dominant and recessive, X-linked and digenic. RP25, a locus for autosomal recessive retinitis pigmentosa (arRP), the most frequently inherited form of RP, was mapped to chromosome 6q between D6S257 and D6S1644 microsatellite markers. ELOVL5, SMAP1 and GLULD1 were selected on the basis of their location, tissue expression and/or function. ELOVL5 is implicated in the elongation of long chain fatty acids, including docosahexanoic acid (DHA), which constitutes 50% of the fatty acids of the outer segment of the photoreceptor. SMAP1 (stromal membrane associated protein 1) was found to be located within RP25 locus and is expressed in retina. GLULD1, glutamate-ammonia ligase (glutamine synthase) domain containing 1, plays a key role in the uptake and metabolism of glutamate in the retina. The absence of pathogenic mutations after molecular analysis argues against the implication of ELOVL5, SMAP1 and GLULD1 in the development of RP25 phenotype. Nevertheless, we could not rule them out as good candidates for other retinal degeneration mapping to the same chromosomal region.
authors.affiliation: Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, 41013 Seville, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Barragan
authors.forename: Irene
authors.initials: I
authors.lastname: Marcos
authors.forename: Salud
authors.initials: S
authors.lastname: Borrego
authors.forename: Guillermo
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D000123:Acetyltransferases; D020090:Chromosome Segregation; D019295:Computational Biology; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons / Q000235:genetics; D000081031:Fatty Acid Elongases; D020690:GTPase-Activating Proteins; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage; D005974:Glutamate-Ammonia Ligase / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: C000630954:ELOVL5 protein, human; D020690:GTPase-Activating Proteins; D008565:Membrane Proteins; C107022:SMAP1 protein, human; D000123:Acetyltransferases; D000081031:Fatty Acid Elongases; D005974:Glutamate-Ammonia Ligase; C507977:LGSN protein, human