ArticleAmerican journal of human genetics2010
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 103 citations in OpenAlex.
- Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries.Journal of immigrant and minority health · 2020Pooled it
- Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Human genetics · 2015Trial
- Tubulin hyperglutamylation induces retinal degeneration by disrupting ciliary architecture and protein trafficking.Zoological research · 2026Article
- Review
- The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia.Frontiers in cell and developmental biology · 2025Article
- Fly Fam161 is an essential centriole and cilium transition zone protein with unique and diverse cell type-specific localizations.Open biology · 2024Article
- Evaluating therapeutic potential of NR2E3 doses in the rd7 mouse model of retinal degeneration.Scientific reports · 2024Article
- Fine-tuning FAM161A gene augmentation therapy to restore retinal function.EMBO molecular medicine · 2024Article
- The evolution of centriole degradation in mouse sperm.Nature communications · 2024Article
- Gene augmentation in FAM161A ciliopathy: Toward functional vision rescue.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Identification of the zebrafish homologues of IMPG2, a retinal proteoglycan.Cell and tissue research · 2023Article
- Retinal Structure and Function in a Knock-in Mouse Model for theOphthalmology science · 2023Article
- A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.Human genetics · 2023Article
- Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa.Advances in experimental medicine and biology · 2023Review
- Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.Eye (London, England) · 2022Article
- Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.International journal of molecular sciences · 2022Article
- The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration.PLoS biology · 2022Article
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon inInternational journal of molecular sciences · 2022Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region on chromosome 2p15 in patients with autosomal-recessive RP (arRP). This region partially overlaps with RP28, a previously identified arRP locus. Sequence analysis of 12 candidate genes revealed three null mutations in FAM161A in 20 families. RT-PCR analysis in 21 human tissues revealed high levels of FAM161A expression in the retina and lower levels in the brain and testis. In the human retina, we identified two alternatively spliced transcripts with an intact open reading frame, the major one lacking a highly conserved exon. During mouse embryonic development, low levels of Fam161a transcripts were detected throughout the optic cup. After birth, Fam161a expression was elevated and confined to the photoreceptor layer. FAM161A encodes a protein of unknown function that is moderately conserved in mammals. Clinical manifestations of patients with FAM161A mutations varied but were largely within the spectrum associated with arRP. On funduscopy, pallor of the optic discs and attenuation of blood vessels were common, but bone-spicule-like pigmentation was often mild or lacking. Most patients had nonrecordable electroretinographic responses and constriction of visual fields upon diagnosis. Our data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of arRP, accounting for ∼12% of arRP families in our cohort of patients from Israel and the Palestinian territories.
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