ArticleAmerican journal of human genetics2009
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.Pigment cell & melanoma research · 2010Pooled it
- New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.Molecular genetics and genomics : MGG · 2026Article
- Integrated Transcriptomic and Epigenomic Analysis Reveals Mechanisms Underlying Melanotic Spot Formation in Red Tilapia (International journal of molecular sciences · 2025Article
- Prediction of Skin Color Using Forensic DNA Phenotyping in Asian Populations: A Focus on Thailand.Biomolecules · 2025Review
- Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.Human genetics · 2025Article
- Transglutaminase Type 2-MITF axis regulates phenotype switching in skin cutaneous melanoma.Cell death & disease · 2023Article
- Genetic adaptation of skin pigmentation in highland Tibetans.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- CCL22 mutations drive natural killer cell lymphoproliferative disease by deregulating microenvironmental crosstalk.Nature genetics · 2022Article
- De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).Molecular genetics & genomic medicine · 2021Article
- Identification of four key biomarkers and small molecule drugs in nasopharyngeal carcinoma by weighted gene co-expression network analysis.Bioengineered · 2021Article
- Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.BMC medical genomics · 2021Article
- Article
- Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Molecular medicine reports · 2016Review
- Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.American journal of human genetics · 2015Article
- Skin as a living coloring book: how epithelial cells create patterns of pigmentation.Pigment cell & melanoma research · 2014Review
- Signatures of diversifying selection in European pig breeds.PLoS genetics · 2013Article
- Withania somnifera extract attenuates stem cell factor-stimulated pigmentation in human epidermal equivalents through interruption of ERK phosphorylation within melanocytes.Journal of natural medicines · 2012Article
- Familial progressive hyperpigmentation: a case report.Case reports in dentistry · 2012Article
- C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation.PloS one · 2011Article
- Kita driven expression of oncogenic HRAS leads to early onset and highly penetrant melanoma in zebrafish.PloS one · 2010Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial progressive hyperpigmentation (FPH) is an autosomal-dominantly inherited disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. The genetic basis for FPH remains unknown. In this study, a six-generation Chinese family with FPH was subjected to a genome-wide scan for linkage analysis. Two-point linkage analysis mapped the locus for FPH at chromosome 12q21.31-q23.1, with a maximum two-point LOD score of 4.35 (Ø = 0.00) at D12S81. Haplotype analysis confined the locus within an interval of 9.09 cM, flanked by the markers D12S1667 and D12S2081. Mutation profiling of positional candidate genes detected a heterozygous transversion (c. 107A-->G) in exon 2 of the KIT ligand (KITLG) gene, predicted to result in the substitution of a serine residue for an asparagine residue at codon 36 (p.N-->S). This mutant "G" allele cosegregated perfectly with affected, but not with unaffected, members of the FPH family. Function analysis of the soluble form of sKITLG revealed that mutant sKITLGN36S increased the content of the melanin by 109% compared with the wild-type sKITLG in human A375 melanoma cells. Consistent with this result, the tyrosinase activity was significantly increased by mutant sKITLGN36S compared to wild-type control. To our knowledge, these data provided the first genetic evidence that the FPH disease is caused by the KITLGN36S mutation, which has a gain-of-function effect on the melanin synthesis and opens a new avenue for exploration of the genetic mechanism of FPH.
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