نتایج جستجو برای: sry
تعداد نتایج: 1626 فیلتر نتایج به سال:
Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary am...
We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome). Using the double stranded DNA cycle sequencing method, a single nucleotide substitution of G-->A was identified at codon 113 of the patient's SRY gene, resulting in a conservative amino acid change from alanine (A) to threonine (T) at a residue that lies within the putative DNA bind...
Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome-linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box-contai...
این پژوهش به منظور بررسی اثر گیاه خارخاسک بر نسبت جنسیت اسپرم قوچ عربی خوزستان با تکنیک qPCR Real-time با استفاده از 18 راس قوچ عربی خوزستان با سه تیمار انجام شد. ژنهای SRY و PLP به ترتیب برای جداسازی قطعات خاصی از توالی‌های کروموزوم Y- و X- تکثیر شدند. تیمارهای آزمایشی شامل : 1- گروه شاهد 2- جیره حاوی 15 گرم بر کیلوگرم گیاه خارخاسک 3- جیره حاوی30 گرم بر کیلوگرم گیاه خارخاسک در جیره بود. از تم...
The Hirschsprung disease (HSCR) is a complex congenital disorder, arising from abnormalities in enteric nervous system (ENS) development. There is a gender disparity among the patients, with the male to female ratio as high as 5 : 1. Loss-of-function mutations of HSCR genes and haploinsufficiency of their gene products are the primary pathogenic mechanisms for disease development. Recent studie...
ChIP-chip studies have revealed that many in vivo binding sites have a weak match to the consensus sequence for the transcription factor being analyzed. Possible explanations for these observations include (1) the in vitro-derived consensus site does not represent the in vivo binding site and/or (2) the factor is recruited to a weak binding site via interaction with another protein. To address ...
The SRY gene located on the short arm of the Y chromosome at band Yp11.3 is crucial for the sex determination. In this case, we report an SRY-negative XXY female fetus with karyotype 47,XX,idic(Y)(p11.2) which has not been reported before to our knowledge. A pregnant woman presented to our department for amniocentesis because the noninvasive prenatal testing pointed out abnormal screening resul...
The Sry (sex determining region on Y chromosome) gene is a master gene for sex determination. We previously reported that the Sry gene has tissue-dependent and differentially methylated regions (T-DMRs) by analyzing the DNA methylation states at CpG sites in the promoter regions. In this study, we found unique non-CpG methylation at the internal cytosine in the 5'-CCTGG-3' pentanucleotide seque...
BACKGROUND To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. METHODS Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding ...
In mammals, sex is determined by the Y chromosome, which encodes a testis-determining factor (TDF). This factor causes the undifferentiated embryonic gonads to develop as testes rather than ovaries. The testes subsequently produce the male sex hormones that are responsible for all male sexual characteristics. In 1990, the sex-determining gene, TDF, was identified and termed SRY in humans (Sry i...
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