Literature DB >> 18836446

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Mai M Abd El-Aziz1, Isabel Barragan, Ciara A O'Driscoll, Leo Goodstadt, Elena Prigmore, Salud Borrego, Marcela Mena, Juan I Pieras, Mohamed F El-Ashry, Leen Abu Safieh, Amna Shah, Michael E Cheetham, Nigel P Carter, Christina Chakarova, Chris P Ponting, Shomi S Bhattacharya, Guillermo Antinolo.   

Abstract

Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture.

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18836446      PMCID： PMC2719291          DOI： 10.1038/ng.241

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  13 in total

Review 1.  Nonsense-mediated decay approaches the clinic.

Authors:  Jill A Holbrook; Gabriele Neu-Yilik; Matthias W Hentze; Andreas E Kulozik
Journal:  Nat Genet       Date:  2004-08       Impact factor: 38.330

2.  A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.

Authors:  A Ruiz; S Borrego; I Marcos; G Antiñolo
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  Transforming the architecture of compound eyes.

Authors:  Andrew C Zelhof; Robert W Hardy; Ann Becker; Charles S Zuker
Journal:  Nature       Date:  2006-10-01       Impact factor: 49.962

4.  Using genomic data to unravel the root of the placental mammal phylogeny.

Authors:  William J Murphy; Thomas H Pringle; Tess A Crider; Mark S Springer; Webb Miller
Journal:  Genome Res       Date:  2007-02-23       Impact factor: 9.043

5.  A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Authors:  M M Abd El-Aziz; M F El-Ashry; W M Chan; K L Chong; I Barragan; G Antiñolo; C P Pang; S S Bhattacharya
Journal:  Ann Hum Genet       Date:  2006-11-29       Impact factor: 1.670

6.  Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Authors:  M M Abd El-Aziz; I Barragan; C O'Driscoll; S Borrego; L Abu-Safieh; J I Pieras; M F El-Ashry; E Prigmore; N Carter; G Antinolo; S S Bhattacharya
Journal:  Ann Hum Genet       Date:  2007-05-29       Impact factor: 1.670

7.  Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.

Authors:  I Barragán; M M Abd El-Aziz; S Borrego; M F El-Ashry; C O'Driscoll; S S Bhattacharya; G Antiñolo
Journal:  Ann Hum Genet       Date:  2007-05-29       Impact factor: 1.670

8.  Rodent phylogeny and a timescale for the evolution of Glires: evidence from an extensive taxon sampling using three nuclear genes.

Authors:  Dorothée Huchon; Ole Madsen; Mark J J B Sibbald; Kai Ament; Michael J Stanhope; François Catzeflis; Wilfried W de Jong; Emmanuel J P Douzery
Journal:  Mol Biol Evol       Date:  2002-07       Impact factor: 16.240

9.  Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

Authors:  Anneke I den Hollander; Robert K Koenekoop; Moin D Mohamed; Heleen H Arts; Karsten Boldt; Katherine V Towns; Tina Sedmak; Monika Beer; Kerstin Nagel-Wolfrum; Martin McKibbin; Sharola Dharmaraj; Irma Lopez; Lenka Ivings; Grange A Williams; Kelly Springell; C Geoff Woods; Hussain Jafri; Yasmin Rashid; Tim M Strom; Bert van der Zwaag; Ilse Gosens; Ferry F J Kersten; Erwin van Wijk; Joris A Veltman; Marijke N Zonneveld; Sylvia E C van Beersum; Irene H Maumenee; Uwe Wolfrum; Michael E Cheetham; Marius Ueffing; Frans P M Cremers; Chris F Inglehearn; Ronald Roepman
Journal:  Nat Genet       Date:  2007-06-03       Impact factor: 38.330

10.  Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.

Authors:  Hui Huang; Eitan E Winter; Huajun Wang; Keith G Weinstock; Heming Xing; Leo Goodstadt; Peter D Stenson; David N Cooper; Douglas Smith; M Mar Albà; Chris P Ponting; Kim Fechtel
Journal:  Genome Biol       Date:  2004-06-28       Impact factor: 13.583
View more
  80 in total

Review 1.  Building a fly eye: terminal differentiation events of the retina, corneal lens, and pigmented epithelia.

Authors:  Mark Charlton-Perkins; Tiffany A Cook
Journal:  Curr Top Dev Biol       Date:  2010       Impact factor: 4.897

Review 2.  Transcribed dark matter: meaning or myth?

Authors:  Chris P Ponting; T Grant Belgard
Journal:  Hum Mol Genet       Date:  2010-08-25       Impact factor: 6.150

Review 3.  Laminin G-like domains: dystroglycan-specific lectins.

Authors:  Erhard Hohenester
Journal:  Curr Opin Struct Biol       Date:  2018-12-06       Impact factor: 6.809

Review 4.  The multiple roles of epidermal growth factor repeat O-glycans in animal development.

Authors:  Amanda R Haltom; Hamed Jafar-Nejad
Journal:  Glycobiology       Date:  2015-07-14       Impact factor: 4.313

5.  Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa.

Authors:  Feng-Juan Gao; Sheng-Hai Zhang; Jun-Yi Chen; Ge-Zhi Xu; Ji-Hong Wu
Journal:  Int J Ophthalmol       Date:  2017-02-18       Impact factor: 1.779

Review 6.  Photoreceptor Cilia and Retinal Ciliopathies.

Authors:  Kinga M Bujakowska; Qin Liu; Eric A Pierce
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-10-03       Impact factor: 10.005

Review 7.  Biological functions of fucose in mammals.

Authors:  Michael Schneider; Esam Al-Shareffi; Robert S Haltiwanger
Journal:  Glycobiology       Date:  2017-07-01       Impact factor: 4.313

8.  GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database.

Authors:  Richard Leslie; Christopher J O'Donnell; Andrew D Johnson
Journal:  Bioinformatics       Date:  2014-06-15       Impact factor: 6.937

9.  Simultaneous expression of two pathogenic genes in four Chinese patients affected with inherited retinal dystrophy.

Authors:  Xiao-Zhen Liu; Tian-Chang Tao; Hong Qi; Shan-Na Feng; Ning-Ning Chen; Lin Zhao; Zhi-Zhong Ma; Gen-Lin Li; Li-Ping Yang
Journal:  Int J Ophthalmol       Date:  2020-02-18       Impact factor: 1.779

10.  Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.

Authors:  Satoshi Katagiri; Masakazu Akahori; Takaaki Hayashi; Kazutoshi Yoshitake; Tamaki Gekka; Kazuho Ikeo; Hiroshi Tsuneoka; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2014-03-21       Impact factor: 2.379
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.