A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM.
Allikmets
R
R
Laboratory of Genomic Diversity, SAIC-Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, Maryland 21702-1201, USA.
Singh
N
N
Sun
H
H
Shroyer
N F
NF
Hutchinson
A
A
Chidambaram
A
A
Gerrard
B
B
Baird
L
L
Stauffer
D
D
Peiffer
A
A
Rattner
A
A
Smallwood
P
P
Li
Y
Y
Anderson
K L
KL
Lewis
R A
RA
Nathans
J
J
Leppert
M
M
Dean
M
M
Lupski
J R
JR
D018528:ATP-Binding Cassette Transporters / Q000096:biosynthesis / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003241:Consanguinity; D017931:DNA Primers; D005091:Exons; D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D007438:Introns; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010786:Photoreceptor Cells / Q000378:metabolism*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011994:Recombinant Proteins / Q000096:biosynthesis; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D005819:Genetic Markers; D011994:Recombinant Proteins