Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa
Article Abstract:
Genetic deletions in COL7A1 have been found to be associated with dominant dystrophic epidermolysis bullosa (DDEB) in a study of two familial cases. COL7A1 is the gene associated with type VII collagen. The study indicates that shortened type VII collagen polypeptides affect formation of anchoring fibrils in DDEB. A 28-bp deletion in exon 73 was found in one patient, and a 27-bp deletion in exon 87 was found in the other patient. These exonic sequences may govern splicing of COL7A1 pre-mRNA.
author: Barrandon, Yann, Lathrop, Mark, Hovnanian, Alain, Prost, Catherine, Sakuntabhai, Anavaj, Hammami-Hauasli, Nadja, Bodemer, Christine, Rochat, Ariane, Prost, Yves de, Wojnarowska, Fenella, Bruckner-Tuderman, Leena
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Chromosome deletion, Collagen diseases, Epidermolysis bullosa
Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region
Article Abstract:
Darier disease (DD), an autosomal dominant skin disorder involving loss of adhesion between epidermal cells and abnormal keratinization, has been studied in four families. Linkage analysis has shown key recombination events to refine the DD locus to a <1-cM region on chromosome 1212q23-24.1. A complete, high-resolution YAC/P1 artificial chromosome (PAC)/bacterial artificial chromosome (BAC) physical map that takes in the refined DD critical region has been constructed.
author: Monaco, Anthony P., Cox, Roger, Lathrop, Mark, Monk, Sarah, Hovnanian, Alain, Sakuntabhai, Anavaj, Carter, Simon A., Bryce, Steven D., Harrington, Louise, Levy, Elaine, Ruiz-Perez, Victor L., Katsantoni, Eleni, Kodvawala, Ahmer, Munro, Colin S., Burge, Susan, Larregue, Marc, Nagy, Gyula, Rees, Jonathan L., Strachan, Tom
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
United States, Hungary, Cell adhesion, Keratinization
A common and recurrent 13-bp deletion in autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
Article Abstract:
Autoimmune polyendocrinopathy type 1 (APS1), an autosomal recessive disorder involving hypoparathyroidism, mucocutaneous candidiasis, and adrenocortical failure is discussed, relative to a study of 12 British families with APS1. A common and recurrent 13-bp deletion in the autoimmune regulator gene was found using SSCP analysis and direct DNA sequencing.
author: Carr, David, Bilous, Rudolf W., Shaw, Nicholas J., Williams, Gareth, Toft, Anthony D., Kendall-Taylor, Pat, Cheetham, Tim, Pearce, SImon H.S., Imrie, Helen, Vaidya, Bijayeswar, Barnes, Nicholas D., Meeran, Karim, Smith, Colin S.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Adrenocortical hormones, Autoimmunity, Candidiasis, Hypoparathyroidism
subjects list: Research, Genetic aspects, United Kingdom, Usage, Abnormalities, Skin, Chromosome mapping, Genetic disorders, Skin abnormalities
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