نتایج جستجو برای: sry gene

تعداد نتایج: 1141873  

Journal: :The New England journal of medicine 2004
Ieuan A Hughes

It has been an indisputable fact that the constitu-tive sex in mammalian fetal development is female. Furthermore, a functioning ovary is not required for the female phenotype, whereas a testis is mandatory for male development. More than 50 years after Jost performed experiments in rabbit embryos in which castration was followed by testis engraftment, his observations remain a beacon of clarit...

Journal: :Human molecular genetics 2000
S Grimmond N Van Hateren P Siggers R Arkell R Larder M B Soares M de Fatima Bonaldo L Smith Z Tymowska-Lalanne C Wells A Greenfield

The mammalian sex-determining pathway is controlled by the presence or absence of SRY expression in the embryonic gonad. Expression of SRY in males is believed to initiate a pathway of gene expression resulting in testis development. In the absence of SRY, ovary development ensues. Several genes have now been placed in this pathway but our understanding of it is far from complete and several fu...

2017
Seyed Mahmoud Tabatabaei Amir Monfaredan Shahrokh Amiri

SRY Abstract Introduction: Prenatal diagnosis is testing for detection of diseases or conditions in a fetus or embryo before it is born. Most of prenatal diagnostic (PD) techniques are invasive and done in late stages of pregnancy. Using fetal DNA in maternal blood for fetal sex determination in early pregnancy might help in management of X-linked genetic diseases. This study aimed to investiga...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2002
Stephan Gasca Joaquin Canizares Pascal De Santa Barbara Catherine Mejean Francis Poulat Philippe Berta Brigitte Boizet-Bonhoure

In mammals, male sex determination starts when the Y chromosome Sry gene is expressed within the undetermined male gonad. One of the earliest effect of Sry expression is to induce up-regulation of Sox9 gene expression in the developing gonad. SOX9, like SRY, contains a high mobility group domain and is sufficient to induce testis differentiation in transgenic XX mice. Before sexual differentiat...

Journal: :Journal of neuroscience methods 2000
J F Lambert B O Benoit G A Colvin J Carlson Y Delville P J Quesenberry

We designed a rapid, simple and accurate PCR method to determine sexual identity of mouse fetuses collected on embryonic day 15. A multiplex PCR amplification was used to detect male-specific sequence (Sry) in DNA extracted from fetal livers through SDS denaturation followed by high salt extraction and precipitation. This extraction method resulted in sufficiently purified DNA in < 1 h and was ...

2013
Mervat M. El-Eshmawy Sohier Yahia Faeza A. El-Dahtory Sahar Hamed El Hadidy M. El Hadidy Mohamed Ragab

Background. The presence of Y chromosome material in Turner's syndrome (TS) patients is a risk factor for the development of gonadoblastoma. Although conventional cytogenetic analysis is the definitive diagnosis of TS, low level Y chromosome mosaicism may be missed. Molecular analysis has demonstrated a higher proportion of mosaicism, but there is controversy regarding the prevalence of Y chrom...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2006
Jessica D Gatewood Aileen Wills Savera Shetty Jun Xu Arthur P Arnold Paul S Burgoyne Emilie F Rissman

Across human cultures and mammalian species, sex differences can be found in the expression of aggression and parental nurturing behaviors: males are typically more aggressive and less parental than females. These sex differences are primarily attributed to steroid hormone differences during development and/or adulthood, especially the higher levels of androgens experienced by males, which are ...

2016
Young-Hee Jeong Hanlin Lu Chi-Hun Park Meiyan Li Huijuan Luo Joung Joo Kim Siyang Liu Kyeong Hee Ko Shujia Huang In Sung Hwang Mi Na Kang Desheng Gong Kang Bae Park Eun Ji Choi Jung Hyun Park Yeon Woo Jeong Changjong Moon Sang-Hwan Hyun Nam Hyung Kim Eui-Bae Jeung Huanming Yang Woo Suk Hwang Fei Gao

Somatic cell nuclear transfer (SCNT) provides an excellent model for studying epigenomic reprogramming during mammalian development. We mapped the whole genome and whole methylome for potential anomalies of mutations or epimutations in SCNT-generated dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of sex development (DSD). Whole genome sequen...

Journal: :Clinical genetics 2012
S Stoppa-Vaucher T Ayabe J Paquette N Patey D Francoeur J-M Vuissoz J Deladoëy M E Samuels T Ogata C L Deal

Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, lea...

2014
Tian-Fu Li Qiu-Yue Wu Cui Zhang Wei-Wei Li Qing Zhou Wei-Jun Jiang Ying-Xia Cui Xin-Yi Xia Yi-Chao Shi

BACKGROUND 46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome. CASE PRESENTATION We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomas...

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