Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

Journal article

The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6) and regulation of transcription (SW12/SNF2, MOT1, and brahma). The complex ATR-X p...

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Authors: Gibbons, R; Picketts, D; Villard, L; Higgs, D

• Publication status: Published
• Journal: Cell
• Volume: 80
• Issue: 6
• Pages: 837-845
• Publication date: 1995-03-01
• DOI: 10.1016/0092-8674(95)90287-2
• EISSN: 1097-4172
• ISSN: 0092-8674
• Language: English
• Keywords: DNA Helicases; Lod Score; Sequence Deletion; Humans; Gene Library; Transcription, Genetic; Molecular Sequence Data; Chromosome Mapping; Gene Expression Regulation; Conserved Sequence; Brain; Mental Retardation; Syndrome; DNA Repair; X Chromosome; Genetic Linkage; Multigene Family; DNA Primers; alpha-Thalassemia; Amino Acid Sequence; Fetus; Abnormalities, Multiple; Polymerase Chain Reaction; Base Sequence; Sequence Homology, Amino Acid; Phenotype