ライフサイエンスコーパス: sex reversal

1 in XY hermaphrodites or XY females (XY(DOM) sex reversal).

2 In severe cases, XY females develop (XYDOM sex reversal).

3 from hypospadias to complete male-to-female sex reversal.

4 vestigate the Y chromosome component of this sex reversal.

5 o the mechanism of C57BL/6J-Y(M. domesticus) sex reversal.

6 nalysis of mutations in SRY that cause human sex reversal.

7 Not all Y(DOM) chromosomes cause sex reversal.

8 ethal skeletal malformation syndrome, and XY sex reversal.

9 d the possible role of DM domain genes in 9p sex reversal.

10 omosome 9, a location implicated in human XY sex reversal.

11 overexpression of Ahch cause male-to-female sex reversal.

12 sed at high levels, but do not normally show sex reversal.

13 t also caused fish to undergo nondirectional sex reversal.

14 gene allele, Kit(W-42J), exacerbates XY(DOM) sex reversal.

15 reversal) are associated with male to female sex reversal.

16 nt (B6-Y(AKR)) or severe (B6-Y(TIR)) XY(DOM) sex reversal.

17 ences are not the underlying causes of XYDOM sex reversal.

18 tive sequence whose deletion is linked to XY sex reversal.

19 etween these mutations and severity of XYDOM sex reversal.

20 mination, transient sex reversal, and severe sex reversal.

21 of loci is necessary and sufficient to cause sex reversal.

22 ccumulation via this pathway resulting in XY sex reversal.

23 variant human SRY associated with inherited sex reversal.

24 either gene leads to complete male-to-female sex reversal.

25 in up-regulation of Wnt4 and male-to-female sex reversal.

26 p38alpha and p38beta also exhibit XY gonadal sex reversal.

27 SRY cause XY gonadal dysgenesis and somatic sex reversal.

28 n an early partial block in male pathway and sex reversal.

29 m by which individuals may be sensitized for sex reversal.

30 volved, as well as how they fail in cases of sex reversal.

31 rgan culture causes male-to-female germ cell sex reversal.

32 enesis of Fgf9 in mice causes male-to-female sex reversal.

33 me previously unassigned cases of XY gonadal sex reversal.

34 deletion of Fgf9 and leads to male-to-female sex reversal.

35 Kit mutation undergo partial female-to-male sex reversal.

36 tal malformation syndrome with or without XY sex reversal.

37 h-6 mutant hermaphrodites exhibit no sign of sex reversal.

38 eletion, in itself, is insufficient to cause sex reversal.

39 n with environmental pressure for phenotypic sex reversal.

40 lic dysplasia need not be associated with XY sex reversal.

41 enting with campomelic dysplasia but without sex reversal.

42 ned with insufficient Sry expression, causes sex reversal.

43 does not rescue their partial female-to-male sex-reversal.

44 e male program and results in male-to-female sex-reversal.

45 on and the molecular mechanisms that lead to sex-reversal.

46 d and, remarkably, are associated with human sex reversal (46, XY gonadal dysgenesis).

47 Mutations causing human sex reversal (46, XY pure gonadal dysgenesis) are cluste

48 To identify the molecular basis for the sex reversal, a 2.7-kb region of Sry, the testis-determi

49 DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenita (AHC) critica

50 e of the corepressor DAX-1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region on chro

51 steroidogenic factor 1, and dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chr

52 protein, and a reduction in dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chr

53 G35E) has been reported to cause complete XY sex reversal and adrenal insufficiency.

54 f these genes, DMRT1, lead to male-to-female sex reversal and are associated with development of gona

55 s in humans, including campomelic dysplasia, sex reversal and cancer, the mechanisms underlying SOX9

56 ddition, no correlation exists between XYDOM sex reversal and copy numbers of pSx1, a Y-repetitive se

57 MY-) mutants, revealed the mechanism between sex reversal and DMY in medaka, and suggested that XY(DM

58 ficiency prevents (suppresses) this dominant sex reversal and Fog2+/-Wt1-Sox9 or Ods XX animals devel

59 Loss of AR results in XY sex reversal and mutations causing reduced AR activity l

60 not solely, responsible for dosage-sensitive sex reversal and provide a model for early events in mam

61 A direct correlation was observed between XY sex reversal and reduced expression levels of Sry and Sf

62 ently in human populations, where they cause sex reversal and Turner syndrome and predispose individu

63 uences ranging from spermatogenic failure to sex reversal and Turner syndrome.

64 Y-homologous (gametologous) regions, causing sex-reversal and infertility.

65 ed to normal testis determination, transient sex reversal, and severe sex reversal.

66 ntric chromosomes, resulting in infertility, sex reversal, and Turner syndrome.

67 B6-YPOS sex reversal appears to result from the incompatibility

68 jority of point mutations resulting in 46X,Y sex reversal are located within this domain.

69 chromosome Xp21 locus DSS (Dosage Sensitive Sex reversal) are associated with male to female sex rev

70 Fgf9-null gonads undergo true male-to-female sex reversal as they initiate but fail to maintain the m

71 elucidate a possible mechanism for human XY sex reversal associated with a 1p31-p35 duplication incl

72 tion-factor haploinsufficiency, including XY sex reversal associated with mutations in SOX9.

73 + mice on the FVB/N background show complete sex reversal, associated with expression of Sox9 in the

74 C57BL/6J-T-associated sex reversal (B6-TAS) in XY mice results in ovarian deve

75 We propose that Kit(W-42J) enhances sex reversal by adversely affecting a critical step in t

76 1 actively prevents postnatal male-to-female sex reversal by blocking the activation of retinoid-sign

77 Thus, these XX animals undergo dominant sex reversal by developing into phenotypically normal, b

78 The mutation causes complete female-to-male sex reversal by inducing a male-specific expression patt

79 including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and

80 lacking Gadd45gamma also exhibit XY gonadal sex reversal caused by disruption to Sry expression.

81 RNA interference resulted in male to female sex reversal, characterized by obvious feminization of g

82 n genes is the molecular genetic analyses of sex reversal conditions (that is, XX individuals with te

83 nt Sry expression patterns, that severity of sex reversal correlates with Sry mRNA titers, and that g

84 Gonadal sex reversal did not alter the sexually dimorphic expres

85 SRY and SOX9 in Sertoli cells lead to human sex reversal diseases with altered male gonad developmen

86 It is currently unclear why primary sex reversal does not occur at the sex-determining stage

87 Duplication of the Xp21 dosage-sensitive sex reversal (DSS) region, which contains the Ahch locus

88 kinase MAP3K4 causes mouse embryonic gonadal sex reversal due to reduced expression of the testis-det

89 Human sex reversal due to subtle defects in the nucleocytoplas

90 ries Sxr(a) [3, 4], the Y-chromosome-derived sex-reversal factor that includes the testis determinant

91 ly, the X-linked, candidate dosage-sensitive sex-reversal gene, Dax-1, antagonizes synergy between SF

92 this locus could account for the presence of sex reversal in 100% of XX Ods/+ mice which develop as m

93 r differentiation, leading to male-to-female sex reversal in 46,XY individuals.

94 cation of acampomelic CD with male-to-female sex reversal in a fetus with a de novo balanced complex

95 e which develop as males, for the absence of sex reversal in approximately 92% of XX Ods/+ mice which

96 ing gene, Sry, suggests that exacerbation of sex reversal in B6-Y(TIR) is not due to blockade of Sry

97 Sex reversal in both mutants is associated with reduced

98 n of autosomal and X-linked genes that cause sex reversal in C57BL/6J (B6) mice carrying a Y chromoso

99 1 allele (Dax1-) results in complete gonadal sex reversal in C57BL/6JEi (B6) XY mice, whereas testes

100 ed whether the deletion if Wnt4 could rescue sex reversal in Fgf9 and Fgfr2 mutants.

101 eads to loss of function, as demonstrated by sex reversal in Fgfr2c(C342Y/-) mice carrying the knock-

102 The suppression of sex reversal in Fog2 heterozygous females results from a

103 Here we report male-to-female sex reversal in mice lacking Fibroblast growth factor 9

104 tion syndrome associated with male-to-female sex reversal in most, but not all, XY individuals.

105 n mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteris

106 Extreme temperatures can also cause sex reversal in several amphibians and lizards with geno

107 This may explain the lack of complete sex reversal in such mutants at the sex-determining stag

108 Ods causes sex reversal in the absence of Sry by upregulating Sox9

109 hanism may be involved in the male-to-female sex reversal in wild populations exposed to environmenta

110 This mutation causes female to male sex reversal in XX Ods/+ mice, and a characteristic eye

111 s the male program and causes male-to-female sex reversal in XY patients.

112 from 129Sl/SvImJ provide protection against sex reversal in XYPOS mice of the C57BL/6J.129-YPOS stra

113 rom 129Sl/SvImJ essentially protects against sex reversal in XYPOS mice.

114 e in humans, referred to as dosage-sensitive sex reversal, in which XY individuals carrying duplicati

115 ating that the reported sensitivity of B6 to sex reversal is consistent with a higher expression of a

116 We propose that Ods sex reversal is due to the Dct promoter element interact

117 A/2J (D2) and (B6xD2)F1 XY mice; (2) B6-DAX1 sex reversal is inherited as a complex trait that includ

118 M64I-associated sex reversal is instead caused by the impaired function

119 , strongly suggesting that the cause of this sex reversal is not the Sry protein itself, but rather t

120 Using "sex-reversal" mouse models with varying sex chromosome c

121 mportance, we have investigated a C-terminal sex-reversal mutation (R133W, position 78 of the HMG box

122 Sex-reversal mutations in human SRY cluster within its h

123 The GATA4/FOG2-dependent sex reversal observed in the transgenic XX gonads has to

124 Whether gonadal sex reversal occurs depends on genetic background (i.e.,

125 Complete sex reversal occurs, however, when the transgene is test

126 By genetic sex reversal of a specific gut region, we induced female

127 ome, craniosynostosis with XY male-to-female sex reversal or CSR.

128 lling molecule WNT4 has been associated with sex reversal phenotypes in mammals.

129 murine Wnt-4, is a strong candidate gene for sex-reversal phenotypes in humans.

130 ne containing the Y chromosome gene Sry This sex-reversal provided clear experimental proof that Sry

131 lly leads to masculinization (female-to-male sex reversal), resulting in neomales.

132 However, only a partial female-to-male sex reversal results from disruption of these ovary-prom

133 A titers, and that genetic correction of the sex reversal results in the upregulation of Sry expressi

134 human disorder characterized by autosomal XY sex reversal, severe skeletal malformations and several

135 rders of sexual development (DSD), including sex reversal, spermatogenic failure, ovarian insufficien

136 Mutation, co-transfection and sex-reversal studies all point to a feedforward, self-re

137 is an ideal model for sex determination and sex reversal, such as XY phenotypically female patients

138 be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one o

139 ily, is a gene that may be responsible for a sex-reversal syndrome in humans, referred to as dosage-s

140 for the 129 region had a lower incidence of sex reversal than XYPOS adults homozygous for the B6 reg

141 ions of gonadal hormones, we induced gonadal sex reversal to alter the hormonal environment of the de

142 owever, in B6-Y(TIR), Kit(W-42J) exacerbated sex reversal to such an extent that almost all XY progen

143 wever, none were unequivocally linked to the sex-reversal trait.

144 racterization of genes implicated in gonadal sex reversal, Turner syndrome, graft rejection and sperm

145 Female to male sex reversal was achieved in an emerging agricultural in

146 o produce partial XY sex reversal while full sex reversal was attained in mutants containing a hypomo

147 The exacerbation of sex reversal was not linked to retardation of early feta

148 i cells in the mouse testis, in experimental sex reversal when fetal ovaries are grafted to adult kid

149 r the FVB-derived allele strongly favors Ods sex reversal, whereas homozygosity for the A/J-derived a

150 gonads was sufficient to produce partial XY sex reversal while full sex reversal was attained in mut

151 a Cys342Tyr substitution displays XY gonadal sex reversal with variable expressivity.

152 range from testicular hypoplasia to complete sex reversal, with most Fgf9(-/-) XY reproductive system