Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

Journal of Medical Genetics

Volumn 36, Issue 9, 1999, Pages 691-693

  Payne, Annette M ^a   Downes, Susan M ^a,b   Bessant, David A R ^a,b   Plant, Catherine ^a,b   Moore, Tony ^b   Bird, Alan C ^a,b   Bhattacharya, Shomi S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

Guanylate cyclase activator protein 2 (GCAP2); Mutation screening; Retinal dystrophy

Indexed keywords

ASPARTIC ACID; CALCIUM BINDING PROTEIN; GLUTAMIC ACID; GUANYLATE CYCLASE ACTIVATOR;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN TISSUE; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHOTOTRANSDUCTION; PRIORITY JOURNAL; RETINA MALFORMATION;

CALCIUM-BINDING PROTEINS; EXONS; GUANYLATE CYCLASE; GUANYLATE CYCLASE-ACTIVATING PROTEINS; HETERODUPLEX ANALYSIS; HUMANS; RETINAL DEGENERATION;

EID: 0032830215     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Gorczyca WA, Polans AS, Surgeucheva I G, Subbaraya I, Baehr W, Palczewski K. Guanylyl cyclase activating protein. A calcium sensitive regulator of phototransduction. J Biol Chem 1995;270:22029-36.
2. Cuenca N, Lopez S, Howes K, Kolb H. The localisation of guanylyl cyclase-activating proteins in the mammalian retina. Invest Ophthalmol Vis Sci 1998;39:1243-50.
3. Dizhoor AM, Hurley JB. Inactivation of EF-hands makes GCAP-2 (p24) a constitutive activator of photoreceptor guanylyl cyclase by preventing a Ca2+-induced "activatorto-inhibitor" transition. J Biol Chem 1996;271:19346-50.
4. Laura RP, Dizhoor AM, Hurley JB. The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain. J Biol Chem 1996;271:11646-51.
5. Surguchov A, Bronson JD, Banerjee P, et al. The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). Genomics 1997;39:312-22.
6. 2+. The physiology and pathology of Ca2+ binding proteins in the retina. Trends Neurosci 1996;19:547-54.
7. Sokal I, Li N, Surgucheva I, et al. GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol Cell 1998;2:129-33.
8. Moncrief ND, Kretsinger RH, Goodman M. Evolution of the EF-hand calcium-modulated proteins I. Relationships based on amino acid sequences. J Mol Evol 1990;30:52262.
9. OttoBruc A, Fariss RN, Haeseleer F, et al. Localisation of guanylate cyclase-activating protein 2 in mammalian retinas. Proc Natl Acad Sci USA 1997;94:4727-32.
10. Payne AM, Downes SM, Bessant DAR, et al. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 1998;7:273-7.
11. Perrault I, Rozet JM, Calvas P, et al. Retinal specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 1996;14:461-4.
12. Kelsell RE, Gregory-Evans K, Payne AM, et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone dystrophy. Hum Mol Genet 1998;7:1179-84.
13. Keen J, Lester D, Inglehearn C, Curtis A, Bhattacharya SS. Rapid detection of single base mismatches as heteroduplexes on HydroLink gels. Trends Genet 1993;7:5.
14. Fulle HJ, Belonogoff V, Wright AF, Swaroop A. Retinal guanylate cyclase-2: genomic organisation and possible role in X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 1998;39:300.
15. Dryja TP, Hahn LB, Reboul T, Arnaund B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet 1996;13:358-60.