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 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 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

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 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

XY Sex reversal associated with a nonsense mutation in SRY

Genomics ◽  
1992 ◽  
Vol 13 (3) ◽  
pp. 838-840 ◽  
Author(s):  
Ken D. McElreavey ◽  
Eric Vilain ◽  
Chafika Boucekkine ◽  
Michel Vidaud ◽  
François Jaubert ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Sex Reversal ◽  
Xy Sex Reversal

scholarly journals Molecular screening of XY SRY-negative sex reversal cases in horses revealed anomalies in amelogenin testing

2020 ◽  
Vol 32 (6) ◽  
pp. 938-941 ◽  
Author(s):  
Maria M. Martinez ◽  
Mónica Costa ◽  
Cecilia Ratti
Keyword(s):  
Developmental Disorder ◽  
Marker Gene ◽  
Sex Reversal ◽  
Initial Result ◽  
Genetic Constitution ◽  
Female Sex ◽  
Sex Marker ◽  
Xy Sex Reversal ◽  
Dna Genotyping ◽  
Male To Female

Male-to-female sex reversal in horses is a developmental disorder in which phenotypic females have a male genetic constitution. Male-to-female sex reversal is the second most common genetic sex abnormality, after X chromosome monosomy. All male-to-female sex reversal cases studied to date have been found to be infertile. Therefore, a screening test is particularly useful in laboratories doing DNA genotyping in horses. Our laboratory has tested > 209,000 horses for parentage using a panel of microsatellite markers and the sex marker gene amelogenin ( AMEL). Suspect XY sex reversal cases are reported females with a male profile by AMEL testing. After routine genotyping, 49 cases were detected and further tested using the sex-determining region Y ( SRY) gene, confirming the XY SRY-negative genotype of suspect sex reversal cases. When some inconsistencies arose in the initial result, a molecular panel of X- and Y-linked markers was analyzed for these samples. Of the 49 cases, 33 were confirmed as XY SRY-negative. The remaining 16 cases were identified as false-positives as a result of anomalies of AMEL testing in horses.

scholarly journals Defective Calmodulin-Mediated Nuclear Transport of the Sex-Determining Region of the Y Chromosome (SRY) in XY Sex Reversal

2005 ◽  
Vol 19 (7) ◽  
pp. 1884-1892 ◽  
Author(s):  
Helena Sim ◽  
Kieran Rimmer ◽  
Sabine Kelly ◽  
Louisa M. Ludbrook ◽  
Andrew H. A. Clayton ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Nuclear Import ◽  
High Mobility ◽  
Sex Reversal ◽  
High Mobility Group ◽  
Missense Mutations ◽  
Nuclear Localization Signals ◽  
Xy Sex Reversal

Abstract The sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, as mutations in SRY can cause XY sex reversal. Although some SRY missense mutations affect DNA binding and bending activities, it is unclear how others contribute to disease. The high mobility group domain of SRY has two nuclear localization signals (NLS). Sex-reversing mutations in the NLSs affect nuclear import in some patients, associated with defective importin-β binding to the C-terminal NLS (c-NLS), whereas in others, importin-β recognition is normal, suggesting the existence of an importin-β-independent nuclear import pathway. The SRY N-terminal NLS (n-NLS) binds calmodulin (CaM) in vitro, and here we show that this protein interaction is reduced in vivo by calmidazolium, a CaM antagonist. In calmidazolium-treated cells, the dramatic reduction in nuclear entry of SRY and an SRY-c-NLS mutant was not observed for two SRY-n-NLS mutants. Fluorescence spectroscopy studies reveal an unusual conformation of SRY.CaM complexes formed by the two n-NLS mutants. Thus, CaM may be involved directly in SRY nuclear import during gonadal development, and disruption of SRY.CaM recognition could underlie XY sex reversal. Given that the CaM-binding region of SRY is well-conserved among high mobility group box proteins, CaM-dependent nuclear import may underlie additional disease states.

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

2013 ◽  
Vol 161 (7) ◽  
pp. 1714-1717 ◽  
Author(s):  
Komudi Siriwardena ◽  
Almundher Al-Maawali ◽  
Andrea Guerin ◽  
Susan Blaser ◽  
David Chitayat
Keyword(s):  
Intellectual Disability ◽  
Sex Reversal ◽  
Pontocerebellar Hypoplasia ◽  
Xy Sex Reversal

scholarly journals Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

1998 ◽  
Vol 35 (9) ◽  
pp. 759-762 ◽  
Author(s):  
A S Teebi ◽  
S Miller ◽  
H Ostrer ◽  
P Eydoux ◽  
C Colomb-Brockmann ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Recessive ◽  
Sex Reversal ◽  
Spastic Paraplegia ◽  
Normal Intelligence ◽  
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
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