ArticleAmerican journal of human genetics1996
Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 42 citations in OpenAlex.
- Article
- Article
- Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.Journal of clinical laboratory analysis · 2018Article
- Attenuation of Mammary Gland Dysplasia and Feeding Difficulties in Tabby Mice by Fetal Therapy.Journal of mammary gland biology and neoplasia · 2018Article
- Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.European journal of human genetics : EJHG · 2009Article
- Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.Genomics · 2008Article
- A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.Journal of human genetics · 2006Article
- Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle.Genome research · 2001Article
- Recovery and potential utility of YACs as circular YACs/BACs.Nucleic acids research · 2000Article
- Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.American journal of human genetics · 1998Article
- The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint in a female with t(X;1)(q13.1;p36.3) and EDA (patient AK) was finely mapped. The EDA region contains five groups of rare-cutter restriction sites that define CpG islands. The two more centromeric of these islands are associated with transcripts of 3.5 kb and 1.8 kb. The third CpG island maps within <1 kb of the translocation breakpoint in patient AK, as indicated by a genomic rearrangement, and approximately 100 kb centromeric from another previously mapped translocation breakpoint (patient AnLy). Northern analysis with a probe from this CpG island detected an approximately 6-kb mRNA in several fetal tissues tested. An extended YAC contig of 1,200 kb with an average of fivefold coverage was constructed. The two most telomeric CpG islands map 350 kb telomeric of the two translocations. Taken together, the results suggest that the CpG island just proximal of the AK translocation breakpoint lies at the 5' end of a candidate gene for EDA.
Indexed as
Identifiers
8554048PMC1914968W1668306242What OpenQuestion holds
Registered trials
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