UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R; ... Ben-Yosef, Tamar; + view all (2024) Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction. The American Journal of Human Genetics , 111 (2) pp. 393-402. 10.1016/j.ajhg.2024.01.001. Green open access

[thumbnail of Michaelides_AJHG-D-23-00612_R4.pdf]
Preview
Text
Michaelides_AJHG-D-23-00612_R4.pdf - Accepted Version

Download (6MB) | Preview

Abstract

Sterile alpha motif domain containing 7 (SAMD7) is a component of the Polycomb repressive complex 1, which inhibits transcription of many genes, including those activated by the transcription factor Cone-Rod Homeobox (CRX). Here we report bi-allelic mutations in SAMD7 as a cause of autosomal-recessive macular dystrophy with or without cone dysfunction. Four of these mutations affect splicing, while another mutation is a missense variant that alters the repressive effect of SAMD7 on CRX-dependent promoter activity, as shown by in vitro assays. Immunostaining of human retinal sections revealed that SAMD7 is localized in the nuclei of both rods and cones, as well as in those of cells belonging to the inner nuclear layer. These results place SAMD7 as a gene crucial for human retinal function and demonstrate a significant difference in the role of SAMD7 between the human and the mouse retina.

Type: Article
Title: Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajhg.2024.01.001
Publisher version: http://dx.doi.org/10.1016/j.ajhg.2024.01.001
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: inherited retinal diseases, macular dystrophy, mutation, retina, SAMD7
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10188996
Downloads since deposit
7Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item