PMID: 11929855Apr 4, 2002Paper

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

Human Molecular Genetics
Jacqueline van der SpuyMichael E Cheetham

Abstract

Leber congenital amaurosis (LCA) is the most severe inherited retinal dystrophy resulting in markedly impaired vision or blindness at birth. LCA is characterized by an extinguished electroretinogram in infancy, which is thought to be indicative of an early and severe impairment of both the rod and cone photoreceptors in the human retina. Recently, the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) gene was identified as the fourth causative gene of LCA. AIPL1 encodes a 384 amino acid protein of unknown function. We have generated a polyclonal antibody against a peptide from a unique region within the primate AIPL1 protein, which detects a protein of approximately 43 kDa in human retinal extracts. A screen of human tissues and immortalized cell lines with this antibody reveals AIPL1 to be specific to human retina and cell lines of retinal origin (Y79 retinoblastoma cells). Within the retina, AIPL1 was detected only in the rod photoreceptor cells of the peripheral and central human retina. The AIPL1 staining pattern extended within the rod photoreceptor cells from the inner segments, through the rod nuclei to the rod photoreceptor synaptic spherules in the outer plexiform layer. AIPL1 was not detected in the cone ph...Continue Reading

Citations

Oct 11, 2002·Human Molecular Genetics·Dayna T AkeyMelanie M Sohocki
Jan 1, 2010·Human Molecular Genetics·Lindsay T KirschmanVisvanathan Ramamurthy
Oct 6, 2005·Retina·Jennifer A GalvinRobert K Koenekoop
Apr 15, 2008·Investigative Ophthalmology & Visual Science·Juan Hidalgo-de-QuintanaJacqueline van der Spuy
Feb 22, 2012·PloS One·John S BettJacqueline van der Spuy
Oct 14, 2003·Proceedings of the National Academy of Sciences of the United States of America·Visvanathan RamamurthyJames B Hurley
Sep 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Visvanathan RamamurthyJames B Hurley
Sep 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Xiaoqing LiuTiansen Li
Feb 9, 2008·The Journal of Comparative Neurology·Douglas S KimConstance L Cepko
Feb 3, 2009·Biophysical Journal·Xiao-Hong WenClint L Makino
Jul 18, 2008·Progress in Retinal and Eye Research·Anneke I den HollanderFrans P M Cremers
May 21, 2008·Progress in Retinal and Eye Research·Maria KosmaoglouMichael E Cheetham
Nov 13, 2003·Vision Research·Rita S SitorusMarkus N Preising
Aug 27, 2013·PloS One·Paige A WinklerSimon M Petersen-Jones
Mar 24, 2015·PloS One·Juan Hidalgo-de-QuintanaJacqueline van der Spuy
Jun 1, 2005·Progress in Lipid Research·Arlene D Albert, Kathleen Boesze-Battaglia
Jan 18, 2017·Ophthalmic Genetics·Razek Georges CoussaRobert K Koenekoop
Nov 28, 2017·Molecular Genetics & Genomic Medicine·Jennifer A ThompsonTina M Lamey
Oct 3, 2019·Ophthalmic Genetics·Ling WanLulin Huang
Jul 26, 2017·Proceedings of the National Academy of Sciences of the United States of America·Ravi P YadavNikolai O Artemyev
Sep 20, 2020·International Journal of Molecular Sciences·Mayur Choudhary, Goldis Malek
Jun 6, 2013·The Journal of Biological Chemistry·Anurima MajumderNikolai O Artemyev
Aug 21, 2020·The Journal of Biological Chemistry·Annika N BoehmAnnette Aichem
Feb 5, 2015·Disease Models & Mechanisms·Shobi VeleriAnand Swaroop

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