A new familial mutation (R133G) in the SRY gene [4]

Clinical Genetics

Volumn 71, Issue 5, 2007, Pages 480-482

  Plaseska karanfilska, Dijana ^a   Noveski, P ^a   Kuzevska, K ^b   Basheska, N ^b   Kocova, M ^b   Efremov, G D ^a  

^a MACEDONIAN ACADEMY OF SCIENCES AND ARTS   (Macedonia)

^b SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ESTRADIOL; GENOMIC DNA; GONADOTROPIN; TESTIS DETERMINING FACTOR;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CONTROLLED STUDY; CYTOGENETICS; DNA DETERMINATION; DNA HYBRIDIZATION; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; GONADAL DYSGENESIS; GONADECTOMY; GONADOBLASTOMA; HIGH MOBILITY GROUP BOX DOMAIN; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XY; LAPAROSCOPY; LETTER; MALE; NUCLEAR LOCALIZATION SIGNAL; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROTEIN INTERACTION; SALPINGECTOMY; SEX DETERMINATION; SRY GENE; TUMOR VOLUME;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; FEMALE; GENES, SRY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 34248329606     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00796.x     Document Type: Letter

References (7)

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2. Cooper DN, Ball EV, Stenson PD et al. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff (HMGD) accessed December 15, 2006, from http://www.hgmd.cf.ac.uk/ac/index.php.
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4. Harley VR, Layfield S, Mitchell CL et al. Defective importin β recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations. Proc Natl Acad Sci U S A 2003: 100: 7045-7050.
5. Affara NA, Chalmers IJ, Ferguson-Smith MA. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Hum Mol Genet 1993: 2: 785-789.
6. Veitia R, Ion A, Barbaux S et al. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 1997: 99: 648-652.
7. Li B, Zhang W, Chan G, Jancso-Radek A, Liu S, Weiss M. Human sex reversal due to impaired nuclear localization of SRY. J Biol Chem 2001: 276: 46480-46484.