Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis

被引：14

作者：

Baldazzi, L ^{[1
]}

Nicolettic, A ^{[1
]}

Gennari, M ^{[1
]}

Barbaro, M ^{[1
]}

Pirazzoli, P ^{[1
]}

Cicognani, A ^{[1
]}

Cacciari, E ^{[1
]}

机构：

[1] Unita Complessa Sci Pediat Med & Chirurg, I-40138 Bologna, Italy

来源：

CLINICAL GENETICS | 2003年 / 64卷 / 03期

关键词：

D O I：

10.1034/j.1399-0004.2003.00125.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：258 / 260

页数：3

共 14 条

[1] ANALYSIS OF THE SRY GENE IN 22 SEX-REVERSED XY FEMALES IDENTIFIES 4 NEW POINT MUTATIONS IN THE CONSERVED DNA-BINDING DOMAIN [J].

AFFARA, NA ;

CHALMERS, IJ ;

FERGUSONSMITH, MA .

HUMAN MOLECULAR GENETICS, 1993, 2 (06) :785-789

[2] Equilibrium binding assays reveal the elevated stoichiometry and salt dependence of the interaction between full-length human sex-determining region on the Y chromosome (SRY) and DNA [J].

Baud, S ;

Margeat, E ;

Lumbroso, S ;

Paris, F ;

Sultan, C ;

Royer, C ;

Poujol, N .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (21) :18404-18410

[3] THE HUMAN SRY TRANSCRIPT [J].

CLEPET, C ;

SCHAFER, AJ ;

SINCLAIR, AH ;

PALMER, MS ;

LOVELLBADGE, R ;

GOODFELLOW, PN .

HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2007-2012

[4] Minireview: Sex differentiation [J].

Hughes, IA .

ENDOCRINOLOGY, 2001, 142 (08) :3281-3287

[5]

*IMG, 2003, HUM GEN MUT DAT

[6] Human sex reversal due to impaired nuclear localization of SRY - A clinical correlation [J].

Li, BR ;

Zhang, W ;

Chan, G ;

Jancso-Radek, A ;

Liu, SH ;

Weiss, MA .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (49) :46480-46484

[7] The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains [J].

Poulat, F ;

deSantaBarbara, P ;

Desclozeaux, M ;

Soullier, S ;

Moniot, B ;

Bonneaud, N ;

Boizet, B ;

Berta, P .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (11) :7167-7172

[8] A GENE FROM THE HUMAN SEX-DETERMINING REGION ENCODES A PROTEIN WITH HOMOLOGY TO A CONSERVED DNA-BINDING MOTIF [J].

SINCLAIR, AH ;

BERTA, P ;

PALMER, MS ;

HAWKINS, JR ;

GRIFFITHS, BL ;

SMITH, MJ ;

FOSTER, JW ;

FRISCHAUF, AM ;

LOVELLBADGE, R ;

GOODFELLOW, PN .

NATURE, 1990, 346 (6281) :240-244

[9] Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9 [J].

Sudbeck, P ;

Scherer, G .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (44) :27848-27852

[10] MALE PSEUDOHERMAPHRODITISM - A HITHERTO UNDESCRIBED FORM [J].

SWYER, GIM .

BMJ-BRITISH MEDICAL JOURNAL, 1955, 2 (SEP17) :709-712

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