ArticleHuman molecular genetics2008
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 70 citations in OpenAlex.
- Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Review
- Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.Genome medicine · 2025Article
- Population structure and selective signature of Kirghiz sheep by Illumina Ovine SNP50 BeadChip.PeerJ · 2024Article
- Multi-omic analysis reveals divergent molecular events in scarring and regenerative wound healing.Cell stem cell · 2022Article
- Review
- How To Build a Bone: PHOSPHO1, Biomineralization, and Beyond.JBMR plus · 2019Review
- An updated classification of hair follicle morphogenesis.Experimental dermatology · 2019Review
- Trps1-deficient transplanted skin gave rise to a substantial amount of hair: Trps1 is unnecessary for hair development.Dermatology reports · 2019Article
- Dermal Condensate Niche Fate Specification Occurs Prior to Formation and Is Placode Progenitor Dependent.Developmental cell · 2019Article
- Lhx2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth.Development (Cambridge, England) · 2016Article
- Dual role of the Trps1 transcription factor in dentin mineralization.The Journal of biological chemistry · 2014Article
- The genetics of human skin disease.Cold Spring Harbor perspectives in medicine · 2014Review
- Association of TRPS1 gene with different EMT markers in ERα-positive and ERα-negative breast cancer.Diagnostic pathology · 2014Article
- Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.PLoS genetics · 2014Article
- [Genetic hair diseases. An update].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2013Review
- Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.Human genetics · 2013Article
- Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2012Article
- Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.Development (Cambridge, England) · 2012Article
- Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics.PloS one · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
Abstract
Ambras syndrome (AS) is a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears. Cytogenetic studies have previously implicated an association with rearrangements of chromosome 8. Here we define an 11.5 Mb candidate interval for AS on chromosome 8q based on cytogenetic breakpoints in three patients. TRPS1, a gene within this interval, was deleted in a patient with an 8q23 chromosomal rearrangement, while its expression was significantly downregulated in another patient with an inversion breakpoint 7.3 Mb downstream of TRPS1. Here, we describe the first potential long-range position effect on the expression of TRPS1. To gain insight into the mechanisms by which Trps1 affects the hair follicle, we performed a detailed analysis of the hair abnormalities in Koa mice, a mouse model of hypertrichosis. We found that the proximal breakpoint of the Koa inversion is located 791 kb upstream of Trps1. Quantitative real-time polymerase chain reaction, in situ hybridization and immunofluorescence analysis revealed that Trps1 expression levels are reduced in Koa mutant mice at the sites of pathology for the phenotype. We determined that the Koa inversion creates a new Sp1 binding site and translocates additional Sp1 binding sites within a highly conserved stretch spanning the proximal breakpoint, providing a potential mechanism for the position effect. Collectively, these results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in AS in humans and the Koa phenotype in mice.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.