ArticleAmerican journal of human genetics2013
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 62 papers, 2 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.Human molecular genetics · 2019Pooled it
- Keratin intermediate filaments mechanically position melanin pigments for genome photoprotection.Nature cell biology · 2026Article
- POFUT1 as a cancer biomarker: insights into its oncogenic mechanisms and clinical relevance.Journal of molecular medicine (Berlin, Germany) · 2025Review
- Dowling-Degos disease in a 23-year-old Jordanian male: a case report.Journal of medical case reports · 2025Article
- Review
- FUT10 and FUT11 are protein O-fucosyltransferases that modify protein EMI domains.Nature chemical biology · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Knockout of theZoological research · 2025Article
- Article
- Novel insight into FCSK-congenital disorder of glycosylation through a CRISPR-generated cell model.Molecular genetics & genomic medicine · 2024Article
- Article
- Preliminary study on the mechanism of POFUT1 in colorectal cancer.Medical oncology (Northwood, London, England) · 2023Article
- Notch mediates the glycolytic switch via PI3K/Akt signaling to support embryonic development.Cellular & molecular biology letters · 2023Article
- Inherited Reticulate Pigmentary Disorders.Genes · 2023Review
- The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.Frontiers in genetics · 2022Review
- Regulation of myeloid and lymphoid cell development by O-glycans on Notch.Frontiers in molecular biosciences · 2022Review
- A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.EMBO molecular medicine · 2021Article
- A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.American journal of human genetics · 2021Article
- Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype.Postepy dermatologii i alergologii · 2021Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dowling-Degos disease (DDD), or reticular pigmented anomaly of the flexures, is a type of rare autosomal-dominant genodermatosis characterized by reticular hyperpigmentation and hypopigmentation of the flexures, such as the neck, axilla, and areas below the breasts and groin, and shows considerable heterogeneity. Loss-of-function mutations of keratin 5 (KRT5) have been identified in DDD individuals. In this study, we collected DNA samples from a large Chinese family affected by generalized DDD and found no mutation of KRT5. We performed a genome-wide linkage analysis of this family and mapped generalized DDD to a region between rs1293713 and rs244123 on chromosome 20 [corrected]. By exome sequencing, we identified nonsense mutation c.430G>T (p.Glu144(∗)) in POFUT1, which encodes protein O-fucosyltransferase 1, in the family. Study of an additional generalized DDD individual revealed the heterozygous deletion mutation c.482delA (p.Lys161Serfs(∗)42) in POFUT1. Knockdown of POFUT1 reduces the expression of NOTCH1, NOTCH2, HES1, and KRT5 in HaCaT cells. Using zebrafish, we showed that pofut1 is expressed in the skin and other organs. Morpholino knockdown of pofut1 in zebrafish produced a phenotype characteristic of hypopigmentation at 48 hr postfertilization (hpf) and abnormal melanin distribution at 72 hpf, replicating the clinical phenotype observed in our DDD individuals. At 48 and 72 hpf, tyrosinase activities decreased by 33% and 45%, respectively, and melanin protein contents decreased by 20% and 25%, respectively. Our findings demonstrate that POFUT1 mutations cause generalized DDD. These results strongly suggest that the protein product of POFUT1 plays a significant and conserved role in melanin synthesis and transport.
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