A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.

AAUGAA) leads to the IPEX syndrome. -->
Autoři: Bennett CL; Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, USA., Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF
Zdroj: Immunogenetics [Immunogenetics] 2001 Aug; Vol. 53 (6), pp. 435-9.
Způsob vydávání: Journal Article
Jazyk: English
Informace o časopise: Publisher: Springer Verlag Country of Publication: United States NLM ID: 0420404 Publication Model: Print Cited Medium: Print ISSN: 0093-7711 (Print) Linking ISSN: 00937711 NLM ISO Abbreviation: Immunogenetics Subsets: MEDLINE
Imprint Name(s): Original Publication: New York, NY : Springer Verlag,
Výrazy ze slovníku MeSH: Mutation*, DNA-Binding Proteins/*genetics , Poly A/*metabolism , Polyendocrinopathies, Autoimmune/*genetics, Cells, Cultured ; DNA Mutational Analysis ; DNA-Binding Proteins/biosynthesis ; Female ; Forkhead Transcription Factors ; Genetic Linkage ; Humans ; Male ; Pedigree ; RNA, Messenger/analysis ; Reverse Transcriptase Polymerase Chain Reaction ; T-Lymphocytes/metabolism ; X Chromosome
Abstrakt: The mouse scurfy gene, Foxp3, and its human orthologue, FOXP3, which maps to Xp11.23-Xq13.3, were recently identified by positional cloning. Point mutations and microdeletions of the FOXP3 gene were found in the affected members of eight of nine families with IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked; OMIM 304930). We evaluated a pedigree with clinically typical IPEX in which mutations of the coding exons of FOXP3 were not detected. Our reevaluation of this pedigree identified an A-->G transition within the first polyadenylation signal (AAUAAA-->AAUGAA) after the stop codon. The next polyadenylation signal is not encountered for a further 5.1 kb. This transition was not detected in over 212 normal individuals (approximately 318 X chromosomes), excluding the possibility of a rare polymorphism. We suggest that this mutation is causal of IPEX in this family by a mechanism of nonspecific degradation of the FOXP3 gene message.
Substance Nomenclature: 0 (DNA-Binding Proteins)
0 (FOXP3 protein, human)
0 (Forkhead Transcription Factors)
0 (RNA, Messenger)
24937-83-5 (Poly A)
Entry Date(s): Date Created: 20011031 Date Completed: 20011204 Latest Revision: 20101118
Update Code: 20240829
DOI: 10.1007/s002510100358
PMID: 11685453
Autor: Bennett CL; Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Seattle, WA 98195, USA., Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF
Jazyk: angličtina
Zdroj: Immunogenetics [Immunogenetics] 2001 Aug; Vol. 53 (6), pp. 435-9.
DOI: 10.1007/s002510100358
Abstrakt: The mouse scurfy gene, Foxp3, and its human orthologue, FOXP3, which maps to Xp11.23-Xq13.3, were recently identified by positional cloning. Point mutations and microdeletions of the FOXP3 gene were found in the affected members of eight of nine families with IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked; OMIM 304930). We evaluated a pedigree with clinically typical IPEX in which mutations of the coding exons of FOXP3 were not detected. Our reevaluation of this pedigree identified an A-->G transition within the first polyadenylation signal (AAUAAA-->AAUGAA) after the stop codon. The next polyadenylation signal is not encountered for a further 5.1 kb. This transition was not detected in over 212 normal individuals (approximately 318 X chromosomes), excluding the possibility of a rare polymorphism. We suggest that this mutation is causal of IPEX in this family by a mechanism of nonspecific degradation of the FOXP3 gene message.
Databáze: MEDLINE
Externí odkaz: