A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa
Abstract
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness, visual field constriction, and severely reduced visual acuity. Despite a number of genes being implicated in RP pathogenesis, the genetic etiology of the disease remains unknown in many patients. In this study, our aim was to identify the disease-causing mutation of a large Chinese family with autosomal dominant RP (adRP). Targeted exon capture sequencing was initially performed to screen mutations in known disease-causing genes, followed by exome sequencing. In doing so, a heterozygous mutation in ADIPOR1 (c.929A > G) that results in an amino acid substitution (p.Y310C) was identified to co-segregate with the disease phenotype in this family. Adipor1 is wildly expressed throughout the body, but appears to be enriched in the photoreceptor inner and outer segments. The p.Y310C mutation, predicted to affect the structure and function of the protein, was confirmed to affect protein folding and its subcellular localization in vitro. In addition, knockdown of adipor1 expression in a zebrafish model with morpholino (MO) preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP. Furthermore, the knockdown phenotype was partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA. We conclude that ADIPOR1 is a novel adRP-causing gene and plays an important role in rod development and maintenance.
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A single amino acid mutation in AdipoR1 is causative of autosomal dominant retinitis pigmentosa.
“others have found that a single amino acid mutation in this receptor is causative of autosomal dominant retinitis pigmentosa (Zhang et al., 2016).”
From Docosanoids and elovanoids from omega-3 fatty acids are pro-homeostatic modulators of inflammatory responses, cell damage and neuroprotection (2018) · cites this paper as Zhang et al., 2016
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- Authors
- Zhang, J., Wang, C., Shen, Y., Chen, N., Wang, L., Liang, L., Guo, T., Yin, X., Ma, Z., Zhang, B., & Yang, L.
- Affiliations
- Peking University Third Hospital (CN)
- Peking University (CN)
- Affiliated Hospital of Qingdao University (CN)
- Corresponding author
- Zhang, Bo
- Yang, Liping
- ORCID
- Venue
- Human Genetics
- Published
- 2016-09-21
- Volume
- 135
- Issue
- 12
- Pages
- 1375-1387
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2521916677
- Cited by
- 57
- References
- 38
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 4 · 2023: 3 · 2022: 8 · 2021: 7 · 2020: 13 · 2019: 5 · 2018: 5 · 2017: 4
- FWCI
- 2.42
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (81170877, 81470666)
- clinical Key Project of Peking University Third Hospital (BYSY2014004)
- the Seeding Grant for Medicine and Life Sciences of Peking University (2014-MB-20)
- Peking University grant for translational research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- retinitis pigmentosa, AdipoR1, autosomal dominant retinitis pigmentosa, rod photoreceptors, photoreceptor development, protein folding, subcellular localization, zebrafish morpholino knockdown, genetic etiology, Chinese family
- MeSH terms
- Animals, Exons, Female, Humans, Male, Mutation, Pedigree, Phenotype, Retinitis Pigmentosa, RNA, Messenger, Zebrafish, Amino Acid Substitution, Genetic Predisposition to Disease, Asian People, Receptors, Adiponectin, Gene Knockdown Techniques, Exome
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