Novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

被引：29

作者：

Bilbao, JR ^{[1
]}

Loridan, L ^{[1
]}

Castano, L ^{[1
]}

机构：

[1] HOSP CRUCES,DEPT PEDIAT ENDOCRINOL,ENDOCRINOL & DIABET RES UNIT,E-48903 BARAKALDO,SPAIN

来源：

HUMAN GENETICS | 1996年 / 97卷 / 04期

关键词：

D O I：

10.1007/s004390050088

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY,results in a truncated peptide with an incomplete DNA-binding domain. The mutation is also present in the father of the two cases, but a portion of wild-type SRY also remains. Our data suggest that the father suffered a postzygotic mutation early in development, but that he retained a remnant of functional SRY protein that accounts for his normal development.

引用

页码：537 / 539

页数：3

共 13 条

[1] CLINICAL AND PATHOLOGICAL SPECTRUM OF 46,XY GONADAL-DYSGENESIS - ITS RELEVANCE TO THE UNDERSTANDING OF SEX-DIFFERENTIATION [J].

BERKOVITZ, GD ;

FECHNER, PY ;

ZACUR, HW ;

ROCK, JA ;

SNYDER, HM ;

MIGEON, CJ ;

PERLMAN, EJ .

MEDICINE, 1991, 70 (06) :375-383

[2] GENETIC-EVIDENCE EQUATING SRY AND THE TESTIS-DETERMINING FACTOR [J].

BERTA, P ;

HAWKINS, JR ;

SINCLAIR, AH ;

TAYLOR, A ;

GRIFFITHS, BL ;

GOODFELLOW, PN ;

FELLOUS, M .

NATURE, 1990, 348 (6300) :448-450

[3] THE ROLE OF THE SEX-DETERMINING REGION-Y GENE IN THE ETIOLOGY OF 46,XX MALENESS [J].

FECHNER, PY ;

MARCANTONIO, SM ;

JASWANEY, V ;

STETTEN, G ;

GOODFELLOW, PN ;

MIGEON, CJ ;

SMITH, KD ;

BERKOVITZ, GD ;

AMRHEIN, JA ;

BARD, PA ;

LEE, PA ;

REID, C ;

TSALIKIAN, E ;

URBAN, MD .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1993, 76 (03) :690-695

[4] MUTATIONAL ANALYSIS OF SRY - NONSENSE AND MISSENSE MUTATIONS IN XY SEX REVERSAL [J].

HAWKINS, JR ;

TAYLOR, A ;

BERTA, P ;

LEVILLIERS, J ;

VANDERAUWERA, B ;

GOODFELLOW, PN .

HUMAN GENETICS, 1992, 88 (04) :471-474

[5]

JAGER RJ, 1992, HUM GENET, V90, P350

[6] A HUMAN XY FEMALE WITH A FRAME SHIFT MUTATION IN THE CANDIDATE TESTIS-DETERMINING GENE SRY [J].

JAGER, RJ ;

ANVRET, M ;

HALL, K ;

SCHERER, G .

NATURE, 1990, 348 (6300) :452-454

[7] MALE DEVELOPMENT OF CHROMOSOMALLY FEMALE MICE TRANSGENIC FOR SRY [J].

KOOPMAN, P ;

GUBBAY, J ;

VIVIAN, N ;

GOODFELLOW, P ;

LOVELLBADGE, R .

NATURE, 1991, 351 (6322) :117-121

[8] XY SEX REVERSAL ASSOCIATED WITH A DELETION 5' TO THE SRY HMG BOX IN THE TESTIS-DETERMINING REGION [J].

MCELREAVY, K ;

VILAIN, E ;

ABBAS, N ;

COSTA, JM ;

SOULEYREAU, N ;

KUCHERIA, K ;

BOUCEKKINE, C ;

THIBAUD, E ;

BRAUNER, R ;

FLAMANT, F ;

FELLOUS, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (22) :11016-11020

[9]

SCHMITT-NEY M, 1995, AM J HUM GENET, V56, P862

[10] 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

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