scholarly journals 46,XY Sex Reversal 1

2020 ◽  
Author(s):  
Keyword(s):  
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

scholarly journals XY sex reversal and gonadal dysgenesis due to 9p24 monosomy

1997 ◽  
Vol 73 (3) ◽  
pp. 321-326 ◽  
Author(s):  
Marie T. McDonald ◽  
Wendy Flejter ◽  
Susan Sheldon ◽  
Mathew J. Putzi ◽  
Jerome L. Gorski
Keyword(s):  
Gonadal Dysgenesis ◽  
Sex Reversal ◽  
Xy Sex Reversal

005.Efficiency of nuclear import of the chromatin-remodelling factor SRY is critical for sex determination

2005 ◽  
Vol 17 (9) ◽  
pp. 64
Author(s):  
D. A. Jans ◽  
G. Kaur ◽  
I. K. H. Poon ◽  
A. Delluc-Clavieries ◽  
K. M. Wagstaff
Keyword(s):  
Sex Determination ◽  
Nuclear Localization ◽  
Nuclear Import ◽  
Sex Reversal ◽  
Nuclear Accumulation ◽  
Missense Mutations ◽  
Nuclear Localization Signals ◽  
Testicular Cells ◽  
Xy Sex Reversal

15% of cases of human XY sex reversal are due to mutations in SRY (sex determining region on the Y chromosome), many of which map to one of SRY’s two independently acting nuclear localization signals (NLSs) flanking its DNA binding domain. The C-terminal NLS (C-NLS) targets SRY to the nucleus through a ‘conventional’ pathway dependent on the nuclear import receptor importin-β (Imp-β). No importin has been shown to bind the N-terminal NLS (N-NLS), but it is known to interact with the Ca2+-binding protein calmodulin (CaM). We examined seven distinct missense mutations in the SRY NLSs from XY sex-reversed human females for effects on nuclear import and ability to interact with CaM/Imp-β1. All mutations were found to result in reduced nuclear localization in transfected testicular cells compared to wild type. The CaM antagonist, calmidazolium chloride (CDZ), was found to significantly reduce SRY nuclear accumulation, indicating a dependence of SRY nuclear import on CaM. Intriguingly, N-NLS mutants were resistant to CDZ’s effects, implying a loss of interaction with CaM; this was confirmed directly by in vitro binding experiments using recombinantly expressed protein. Either impaired CaM or Imp-β1 binding can thus be the basis of sex-reversal in human patients. Our results implicate a CaM-dependent nuclear import pathway for SRY mediated by the N-NLS that, together with the C-NLS, is required to achieve threshold levels of SRY in the nucleus for male sex determination.

A Case of Ovine Female XY Sex Reversal Syndrome Not Related to Anomalies in the Sex-Determining Region Y (SRY)

2009 ◽  
Vol 126 (4) ◽  
pp. 329-332 ◽  
Author(s):  
L.M. Ferrer ◽  
L.V. Monteagudo ◽  
J.A. García de Jalón ◽  
M.T. Tejedor ◽  
J.J. Ramos ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Xy Sex Reversal

The Region on 9p Associated with 46,XY Sex Reversal Contains Several Transcripts Expressed in the Urogenital System and a Novel Doublesex-Related Domain

Genomics ◽  
2000 ◽  
Vol 64 (2) ◽  
pp. 170-178 ◽  
Author(s):  
Chris Ottolenghi ◽  
Reiner Veitia ◽  
Lluis Quintana-Murci ◽  
Delphine Torchard ◽  
Luca Scapoli ◽  
...  
Keyword(s):  
Sex Reversal ◽  
Urogenital System ◽  
Xy Sex Reversal

Unusual distribution of Zfy and Zfx sequences on the sex chromosomes of the wood lemming, a species exhibiting XY sex reversal

1992 ◽  
Vol 60 (1) ◽  
pp. 48-54 ◽  
Author(s):  
Y.-F.C. Lau ◽  
T.L. Yang-Feng ◽  
B. Elder ◽  
K. Fredga ◽  
U.H. Wiberg
Keyword(s):  
Sex Chromosomes ◽  
Sex Reversal ◽  
Unusual Distribution ◽  
Wood Lemming ◽  
Xy Sex Reversal
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