Literature DB >> 8557257

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

D Valverde1, T Solans, D Grinberg, S Balcells, L Vilageliu, M Bayés, P Chivelet, C Besmond, M Goossens, R González-Duarte, M Baiget.   

Abstract

We report the molecular analysis of the beta subunit of the rod phosphodiesterase (PDEB) gene in a consanguineous autosomal recessive retinitis pigmentosa family that shows homozygosity for polymorphisms in the genomic region comprising this gene, and positive linkage between a PDEB marker and the disease. The two affected sisters are homozygous for a T to G transversion in codon 699 of the PDEB gene, leading to the substitution of a leucine by an arginine residue. This change, enclosed in the catalytic domain of the PDEB, could result in a modification of the protein structure preventing the physiological hydrolysis of cGMP.

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8557257     DOI： 10.1007/bf00218829

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  A dinucleotide repeat polymorphism at the D4S127 locus.

Authors:  S A Taylor; G T Barnes; M E MacDonald; J F Gusella
Journal:  Hum Mol Genet       Date:  1992-05       Impact factor: 6.150

2.  PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease.

Authors:  H S Scott; P V Nelson; J J Hopwood; C P Morris
Journal:  Nucleic Acids Res       Date:  1991-11-25       Impact factor: 16.971

3.  cGMP binding sites on photoreceptor phosphodiesterase: role in feedback regulation of visual transduction.

Authors:  R H Cote; M D Bownds; V Y Arshavsky
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205

4.  (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3.

Authors:  B Weber; O Riess; H Daneshvar; R Graham; M R Hayden
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

5.  Missense rhodopsin mutation in a family with recessive RP.

Authors:  G Kumaramanickavel; M Maw; M J Denton; S John; C R Srikumari; U Orth; R Oehlmann; A Gal
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

6.  Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

Authors:  M E McLaughlin; M A Sandberg; E L Berson; T P Dryja
Journal:  Nat Genet       Date:  1993-06       Impact factor: 38.330

7.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

8.  Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.

Authors:  M L Suber; S J Pittler; N Qin; G C Wright; V Holcombe; R H Lee; C M Craft; R N Lolley; W Baehr; R L Hurwitz
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

9.  Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

Authors:  C Ayuso; B Garcia-Sandoval; C Najera; D Valverde; M Carballo; G Antiñolo
Journal:  Clin Genet       Date:  1995-09       Impact factor: 4.438

10.  Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.

Authors:  M Bayés; D Valverde; S Balcells; D Grinberg; L Vilageliu; J Benítez; C Ayuso; M Beneyto; M Baiget; R Gonzàlez-Duarte
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132
View more
  5 in total

1.  Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Authors:  Kazuki Kuniyoshi; Hiroyuki Sakuramoto; Kazutoshi Yoshitake; Kazuho Ikeo; Masaaki Furuno; Kazushige Tsunoda; Shunji Kusaka; Yoshikazu Shimomura; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2015-04-01       Impact factor: 2.379

2.  Novel mutations in PDE6B causing human retinitis pigmentosa.

Authors:  Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
Journal:  Int J Ophthalmol       Date:  2016-08-18       Impact factor: 1.779

3.  Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.

Authors:  Sherry Shen; Tharikarn Sujirakul; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2014-05-14       Impact factor: 1.803

4.  Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.

Authors:  Chunming Liu; Tshering Sherpa; Michael D Varnum
Journal:  Mol Vis       Date:  2013-06-11       Impact factor: 2.367

5.  Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Authors:  Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A Sieving; S Amer Riazuddin; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-04-01       Impact factor: 4.799
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.