A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female

Andrologia ◽  
2021 ◽  
Author(s):  
Prafulla S. Ambulkar ◽  
Jwalant E. Waghmare ◽  
Poonam Verma Shivkumar ◽  
Pratibha Narang ◽  
Asoke K. Pal
Keyword(s):  
Missense Mutation ◽  
Sex Reversal ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Sex Reversal

scholarly journals A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal

2000 ◽  
Vol 45 (2) ◽  
pp. 112-114 ◽  
Author(s):  
Koji Okuhara ◽  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Kenji Fujieda
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Sex Reversal ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Sex Reversal

Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal

1998 ◽  
Vol 11 (S1) ◽  
pp. S328-S329 ◽  
Author(s):  
Yvonne Lundberg ◽  
Martin Ritzén ◽  
Jonas Harlin ◽  
Anna Wedell
Keyword(s):  
Missense Mutation ◽  
Sex Reversal ◽  
Hmg Box ◽  
Xy Sex Reversal

Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal

2020 ◽  
Vol 105 (5) ◽  
pp. 1355-1365
Author(s):  
Nan Wang ◽  
Wenjiao Zhu ◽  
Bing Han ◽  
Hao Wang ◽  
Hui Zhu ◽  
...  
Keyword(s):  
Sex Determination ◽  
Missense Mutation ◽  
Transcriptional Activity ◽  
Nuclear Translocation ◽  
Sex Reversal ◽  
Chromosome 17 ◽  
Sry Gene ◽  
Single Nucleotide ◽  
Xy Sex Reversal ◽  
Sox9 Gene

Abstract Background SRY (sex determining region of Y) is one of the important genes involved in the process of human sex determination. The disturbed sex determination caused by an SRY mutation accounts for 10% to 15% of cases with 46, XY sex reversal. Recently, 3 distal enhancers were identified upstream of the SOX9 gene. Objectives The purpose of this study was to investigate the molecular etiology of 46, XY sex reversal in 3 familial patients and a sporadic patient. Design Next-generation sequencing was used to reveal the genotype and inherited pattern. Copy number variations and single nucleotide polymorphism haplotyping were analyzed to observe the alteration of enhancers of SOX9. Transcriptional activity of SRY mutation were assessed by a dual luciferase reporting system, and nuclear translocation was observed by confocal microscopy. Results Two novel SRY gene mutations, p.Arg76Leu and p.Glu89flx15, were identified. In the pedigree with multiple patients, p.Arg76Leu mutation in SRY and p.Gly212Ser mutation in NR5A1 were identified in the proband. The heterozygous deletion far upstream of the SOX9 gene in chromosome 17 was identified in the 3 patients in this family, containing the distal enhancer eSR-A of SOX9 but not eSR-B and eALDI. The frameshift mutation p.Glu89flx15 was revealed to inhibit the transcriptional activity of the target gene, whereas the missense mutation p.Arg76Leu barely showed an effect. Conclusion In contrast to sporadic cases, inherited single nucleotide variations of SRY are not the main cause of the severe phenotype of 46, XY sex reversal, and the enhancers of SOX9 should be investigated carefully in such patients.

A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal

1994 ◽  
Vol 3 (8) ◽  
pp. 1437-1438 ◽  
Author(s):  
Taku lida ◽  
Yutaka Nakahori ◽  
Rie Komaki ◽  
Eri Mori ◽  
Nobuyoshi Hayashi ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Sex Reversal ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Sex Reversal

scholarly journals XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

1992 ◽  
Vol 89 (22) ◽  
pp. 11016-11020 ◽  
Author(s):  
K. McElreavy ◽  
E. Vilain ◽  
N. Abbas ◽  
J. M. Costa ◽  
N. Souleyreau ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Hmg Box ◽  
Xy Sex Reversal

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal

1997 ◽  
Vol 67 (4) ◽  
pp. 675-679 ◽  
Author(s):  
Randall S. Hines ◽  
Sandra P.T. Tho ◽  
Yue Y. Zhang ◽  
Leo Plouffe ◽  
Keith A. Hansen ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Germ Line ◽  
Sex Reversal ◽  
Xy Sex Reversal

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal

2004 ◽  
Vol 128A (1) ◽  
pp. 46-47 ◽  
Author(s):  
Mario Giuffrè ◽  
Piero Sammarco ◽  
Carmelo Fabiano ◽  
Fabio Giardina ◽  
Fabio Lunetta ◽  
...  
Keyword(s):  
Newborn Infant ◽  
Nonsense Mutation ◽  
Sex Reversal ◽  
Sry Gene ◽  
Xy Sex Reversal

A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

1998 ◽  
Vol 102 (2) ◽  
pp. 213-215 ◽  
Author(s):  
Sorahia Domenice ◽  
Miriam Yumie Nishi ◽  
Ana Elisa Correia Billerbeck ◽  
Ana Claudia Latronico ◽  
Maria Aparecida Medeiros ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gonadal Dysgenesis ◽  
Normal Male ◽  
Sry Gene ◽  
Hmg Box ◽  
Partial Gonadal Dysgenesis
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