title: Polymorphisms and rare sequence variants at the ROM1 locus.
abstract: Rom-1 is an integral membrane protein of the rod photoreceptor outer segment. The ROM1 gene is located on human chromosome 11q13, a region to which the loci of four degenerative retinopathies have been mapped. To identify alleles of ROM1, we have screened the DNA of 57 controls and 180 patients with inherited retinopathies. Six ROM1 polymorphisms were identified: two in non-coding sequences (C-7T, T insertion 966/967), two substitutions (Ala118Gly, Arg223Arg), and two RFLPs outside the transcription unit, detected with BcII and Hind III. One rare sequence variant (Arg229His) was found in two adRP probands; in the one family studied the allele was discordant with the disease. A second rare variant (Ala265Thr) was found in both an adRP family and a control; a third rare variant (Met271Thr) was present only in a control family. These polymorphisms will be useful in the evaluation of ROM1 as a candidate gene in inherited retinal diseases. The recognition of the rare variants will prevent their misassignment as disease-causing mutations.
authors.affiliation: Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: R A
authors.initials: RA
authors.lastname: Bascom
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: P
authors.initials: P
authors.lastname: Humphries
authors.forename: G A
authors.initials: GA
authors.lastname: Fishman
authors.forename: J C
authors.initials: JC
authors.lastname: Murray
authors.forename: R R
authors.initials: RR
authors.lastname: McInnes
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D017931:DNA Primers; D015247:Deoxyribonuclease HindIII; D015252:Deoxyribonucleases, Type II Site-Specific; D005136:Eye Proteins / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D012164:Retinal Diseases / Q000235:genetics*; D012374:Rod Cell Outer Segment / Q000378:metabolism; D059470:Tetraspanins
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; D008565:Membrane Proteins; C513106:ROM1 protein, human; D059470:Tetraspanins; D015247:Deoxyribonuclease HindIII; C041666:endodeoxyribonuclease BclI; D015252:Deoxyribonucleases, Type II Site-Specific