Mammalian Genome 9, 400-403 (1998). Mammalian Genome Incorporating nonvo Cron,, © Springer-Verlag New York Inc. 1998 Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains David J. Picketts,' Ayse 0. Tastan, 2 Douglas R. Higgs,' Richard J. Gibbons' 'MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK 2Department of Molecular Biology and Genetics, Bogazici University, Bebek 80815, Istanbul, Turkey Received: 29 September 1997 / Accepted: 14 January 1998 It has previously been shown that mutations in the X-encoded the official mouse symbol for this locus. Comparison of the human human gene hATRX give rise to severe mental retardation asso- and mouse nucleotide sequences demonstrates an overall identity ciated with a-thalassemia, urogenital abnormalities, and a charac- of 85%. We recently established the complete exon/intron struc- teristic facial appearance (ATR-X syndrome; Gibbons et al. 1995). ture of the hATRX gene (Picketts et al. 1996) and have obtained The predicted ATRX protein contains seven highly conserved co- preliminary, incomplete data for mATRX that are consistent with a linear domains which classify it as a member of the helicase/ similar genomic structure. Throughout the text we refer to the exon ATPase
Mammalian Genome – Springer Journals
Published: Mar 27, 2009
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