Literature DB >> 8812493

Characterization and chromosomal localization of the gene for human rhodopsin kinase.

S C Khani1, M Abitbol, S Yamamoto, I Maravic-Magovcevic, T P Dryja.   

Abstract

G-protein-dependent receptor kinases (GRKs) play a key role in the adaptation of receptors to persistent stimuli. In rod photoreceptors rhodopsin kinase (RK) mediates rapid desensitization of rod photoreceptors to light by catalyzing phosphorylation of the visual pigment rhodopsin. To study the structure and mechanism of GRKs in human photoreceptors, we have isolated and characterized cDNA and genomic clones derived from the human RK locus using a bovine rhodopsin kinase cDNA fragment as a probe. The RK locus, assigned to chromosome 13 band q34, is composed of seven exons that encode a protein 92% identical in amino acid sequence to bovine rhodopsin kinase. The marked difference between the structure of this gene and that of another recently cloned human GRK gene suggests the existence of a wide evolutionary gap between members of the GRK gene family.

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Year:  1996        PMID: 8812493     DOI: 10.1006/geno.1996.0399

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  5 in total

1.  Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction.

Authors:  E R Weiss; M H Ducceschi; T J Horner; A Li; C M Craft; S Osawa
Journal:  J Neurosci       Date:  2001-12-01       Impact factor: 6.167

2.  Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness.

Authors:  S C Khani; L Nielsen; T M Vogt
Journal:  Proc Natl Acad Sci U S A       Date:  1998-03-17       Impact factor: 11.205

3.  Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.

Authors:  Caroline Atef Tawfik; Nagham Maher Elbagoury; Noha Ibrahim Khater; Mona Lotfi Essawi
Journal:  BMC Ophthalmol       Date:  2022-05-12       Impact factor: 2.086

4.  Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man.

Authors:  A V Cideciyan; X Zhao; L Nielsen; S C Khani; S G Jacobson; K Palczewski
Journal:  Proc Natl Acad Sci U S A       Date:  1998-01-06       Impact factor: 11.205

5.  Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).

Authors:  D M Waldner; N C Giraldo Sierra; S Bonfield; L Nguyen; I S Dimopoulos; Y Sauvé; W K Stell; N T Bech-Hansen
Journal:  Channels (Austin)       Date:  2018-01-02       Impact factor: 2.581

  5 in total

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