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MOLECULAR BASIS OF CELL AND DEVELOPMENTAL BIOLOGY: Human Sex Reversal Due to Impaired Nuclear Localization of SRY: A CLINICAL CORRELATION
Biaoru Li; Wei Zhang; Ging Chan; Agnes Jancso-Radek; Shunhe Liu; Michael A. Weiss
2001-10-18
Source PublicationTHE JOURNAL OF BIOLOGICAL CHEMISTRY
ISSN0021-9258, 1083-351X
Volume276Issue:47Pages:46480–46484
Abstract

SRY, an architectural transcription factor encoded by the sex-determining region of the Y chromosome, initiates testicular differentiation in mammalian embryogenesis. The protein contains a high-mobility group (HMG) box, a DNA-bending motif conserved among a broad class of nuclear proteins. Mutations causing human sex reversal (46, XY pure gonadal dysgenesis) are clustered in this domain. Basic N- and C-terminal regions of the HMG box are each proposed to provide nuclear localization signals. The significance of the C-terminal basic cluster (SRY residues 130–134) is uncertain, however, as its activity in cell culture varies with assay conditions. To test its importance, we have investigated a C-terminal sex-reversal mutation (R133W, position 78 of the HMG box). This de novo mutation impairs nuclear localization but not specific DNA binding or sharp DNA bending. Correlation between these properties and the phenotype of the patient suggests that nuclear localization of SRY is required for testicular differentiation and directed in part by the C-terminal basic cluster. To our knowledge, these results provide the first example of impaired organogenesis due to a nuclear localization signal mutation.

DOIhttps://doi.org/10.1074/jbc.C100388200
Indexed BySCI
Language英语
WOS Research AreaBiochemistry & Molecular Biology
WOS SubjectBiochemistry & Molecular Biology
WOS IDWOS:000172573100133
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Cited Times [WOS]:39   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
CollectionInstitute of Chinese Medical Sciences
Corresponding AuthorMichael A. Weiss
AffiliationDepartment of Biochemistry, Case Western Reserve University, School of Medicine, Cleveland, Ohio 44106, USA.
Recommended Citation
GB/T 7714
Biaoru Li,Wei Zhang,Ging Chan,et al. MOLECULAR BASIS OF CELL AND DEVELOPMENTAL BIOLOGY: Human Sex Reversal Due to Impaired Nuclear Localization of SRY: A CLINICAL CORRELATION[J]. THE JOURNAL OF BIOLOGICAL CHEMISTRY,2001,276(47):46480–46484.
APA Biaoru Li,Wei Zhang,Ging Chan,Agnes Jancso-Radek,Shunhe Liu,&Michael A. Weiss.(2001).MOLECULAR BASIS OF CELL AND DEVELOPMENTAL BIOLOGY: Human Sex Reversal Due to Impaired Nuclear Localization of SRY: A CLINICAL CORRELATION.THE JOURNAL OF BIOLOGICAL CHEMISTRY,276(47),46480–46484.
MLA Biaoru Li,et al."MOLECULAR BASIS OF CELL AND DEVELOPMENTAL BIOLOGY: Human Sex Reversal Due to Impaired Nuclear Localization of SRY: A CLINICAL CORRELATION".THE JOURNAL OF BIOLOGICAL CHEMISTRY 276.47(2001):46480–46484.
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