scholarly journals Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome

2010 ◽  
Vol 50 (2) ◽  
pp. 85-94 ◽  
Author(s):  
Tomoko Mitsuhashi ◽  
Katsuhiko Warita ◽  
Teruo Sugawara ◽  
Yoshiaki Tabuchi ◽  
Ichiro Takasaki ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Pericentric Inversion ◽  
Sry Gene ◽  
Xy Female

scholarly journals Global gene profiling and comprehensive bioinformatics analysis of a 46,XY female with pericentric inversion of the Y chromosome

2010 ◽  
Vol 50 (1) ◽  
pp. 40-51 ◽  
Author(s):  
Tomoko Mitsuhashi ◽  
Katsuhiko Warita ◽  
Yoshiaki Tabuchi ◽  
Ichiro Takasaki ◽  
Takashi Kondo ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Pericentric Inversion ◽  
Bioinformatics Analysis ◽  
Gene Profiling ◽  
Xy Female

scholarly journals A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293

2021 ◽  
Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Molecular Diagnosis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Sry Gene ◽  
Pathogenic Role ◽  
Common Cause ◽  
Xy Female

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.

scholarly journals The detection of female cell activity in male sex chromosome chimeric Rideau Arcott sheep, using the Xist gene product as a marker

SURG Journal ◽  
2008 ◽  
Vol 1 (2) ◽  
pp. 20-25
Author(s):  
Okimi Peters ◽  
W. Allan King
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Cell Activity ◽  
Xist Gene ◽  
Specific Gene ◽  
Xist Expression ◽  
Female Cell ◽  
Male Sex ◽  
Polymerase Chain ◽  
Xy Female

The detection of the SRY (Sex-determining region on the Y chromosome) gene is a popular method used for the identification of freemartins (XX/XY female chimeras). This method relies on the fact that the SRY gene is a Y chromosome specific gene and is thus normally only present in males therefore detecting its presence in a female indicates the presence of male cells (XY cells) within the female. This concept can be extrapolated to the male counterparts of freemartins with regards to the Xist gene. This gene is normally only widely expressed in females and can be used as a marker for identifying females. Therefore, detecting Xist gene expression in males (in tissues other than the testes, as the Xist gene is expressed exclusively in the testes of males) may indicate that these males contain transcriptionally competent female cells and thus necessarily labels them as sex-chromosome chimeras. In the present study four previously identified male sex chromosome chimeras were screened for the expression of the Xist gene using reverse transcription Polymerase Chain Reaction (PCR), and it was detected in three of the four chimeras. Xist expression was not detected in one of the chimeras because the proportion of female cells in its blood is significantly low and thus it is likely that the blood sample used in the study did not possess female cells. None-the-less it was concluded that the detection of Xist expression in male sex chromosome chimeras can be used as an indication of the presence and transcriptional competence of female cells within them.

Abnormal structure of the Y chromosome detected in bovine gonadal hypoplasia (XY female) by FISH

1997 ◽  
Vol 76 (1-2) ◽  
pp. 36-38 ◽  
Author(s):  
K. Kawakura ◽  
Y-I. Miyake ◽  
R.K. Murakami ◽  
S. Kondoh ◽  
T-I. Hirata ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Abnormal Structure ◽  
Xy Female

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

Gene ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 467-470 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Janusz Szemraj ◽  
Jolanta Słowikowska-Hilczer ◽  
Marek Wieczorek ◽  
...  
Keyword(s):  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

PERICENTRIC INVERSION OF THE Y CHROMOSOME OF INFERTILE MALE

2000 ◽  
Vol 45 (3) ◽  
pp. 181-185 ◽  
Author(s):  
H. Tomomasa, Y. Adachi, M. Iwabuchi
Keyword(s):  
Y Chromosome ◽  
Pericentric Inversion ◽  
Infertile Male

Deletion of the Sry region on the Y chromosome detected in a case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles

1999 ◽  
Vol 31 (4) ◽  
pp. 236-238 ◽  
Author(s):  
S. ABE ◽  
Y-I. MIYAKE ◽  
S-I. KAGEYAMA ◽  
G. WATANABE ◽  
K. TAYA ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Hormonal Profiles ◽  
Xy Female

Anatomy and chromosomes of two intersexual dasyurid marsupials

2003 ◽  
Vol 15 (5) ◽  
pp. 293 ◽  
Author(s):  
P. A. Woolley ◽  
N. Guedelha ◽  
J. A. M. Graves
Keyword(s):  
Y Chromosome ◽  
X Chromosome ◽  
Reproductive Tract ◽  
The Other ◽  
Female Side ◽  
Sry Gene ◽  
Male And Female ◽  
Sexual Dimorphisms ◽  
Male Side

The intersexual phenotypes of marsupials with XXY and XO chromosome constitutions imply that not all sexual dimorphisms are under the control of testicular hormones and, ultimately, the SRY gene on the Y chromosome. It has been hypothesised that there is a gene on the X chromosome that determines whether either a scrotum will form (one copy of the gene) or a pouch with teats (two copies of the gene). Here, we describe the anatomy and chromosomes of two intersexual dasyurid marsupials. One, a Dasyuroides byrnei, had a pouch, but the reproductive tract was essentially male. The other, a Sminthopsis douglasi, had a hemipouch and a hemiscrotum and the reproductive tract was essentially female. The S. douglasi was a mosaic for cells with an apparently normal 2n = 14, XX female karyotype and cells with 2n = 14 plus (usually) two dot-like supernumerary elements 2n = 14, XX + 2B. The D. byrnei cells examined also had a 2n = 14, XX + 2B karyotype. In fibroblasts from the male and female sides of the S. douglasi, it was possible to assign the 2n = 14, XX karyotype to the male side and the 2n = 14, XX + 2B to the female side.

XY female mice resulting from a heritable mutation in the primary testis-determining gene, Tdy

Development ◽  
1990 ◽  
Vol 109 (3) ◽  
pp. 635-646 ◽  
Author(s):  
R. Lovell-Badge ◽  
E. Robertson
Keyword(s):  
Y Chromosome ◽  
Southern Blotting ◽  
Es Cells ◽  
Embryonic Stem ◽  
Chromosome Analysis ◽  
Specific Gene ◽  
Es Cell ◽  
Karyotypic Analysis ◽  
Testis Determination ◽  
Xy Female

Chimeric mice constructed with XY embryonic stem (ES) cells that had been multiply infected with a retroviral vector were used in a genetic screen to look for mutations affecting the sex determination pathway in mice. From a small number of chimeras screened one was identified that gave rise to a low proportion of XY females amongst his offspring. Analysis of the segregating patterns of retroviral insertions demonstrated that the mutation was found in a subset of the offspring derived from one originally infected ES cell. However, the mutation appeared to have occurred subsequent to the infection. Some of the XY females proved to be fertile, and the mutant phenotype was found to segregate exclusively with the Y chromosome. Analysis of the offspring also confirmed the absence of any retroviral insertion that could be correlated with the mutation. Further characterisation of the Y chromosome carrying the mutation by karyotypic analysis, and by Southern blotting with a range of Y-specific DNA probes suggested that there has been no gross deletion or rearrangement of the Y carrying the mutation. There also appeared to be no loss of Y-specific gene functions apart from that of testis determination. Moreover, the mutation is complemented by Sxr', the minimum portion of the mouse Y known to carry Tdy. From the phenotype and deduced location of the mutation, we conclude that it is within the Tdy locus. This is the first such mutation to be described in mice.

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