Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs

Autor: Jinhua Wu, Shuwen Tan, Zheng Feng, Haiquan Zhao, Congying Yu, Yin Yang, Bingzhou Zhong, Wenxiao Zheng, Hui Yu, Hua Li

Publikováno v: Biology of Sex Differences, Vol 15, Iss 1, Pp 1-18 (2024)

Abstract Background Differences of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. In more than 50% of human DSD cases, a molecular diagnosis is not available. In intensively farmed pig po

Externí odkaz: https://doaj.org/article/9980b744a8fa40db9d2f1ec02d800540

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY.

Autor: Chisato Narita¹, Noriyuki Takubo¹ n-takubo@juntendo.ac.jp, Manami Sammori¹, Yuko Matsumura², Kazuhiro Shimura³, Rie Ozaki², Hidenori Haruna¹, Satoshi Narumi³, Tomohiro Ishii³, Tomonobu Hasegawa³, Toshiaki Shimizu⁴

Publikováno v: Clinical Pediatric Endocrinology. Oct2023, Vol. 32 Issue 4, p235-238. 4p.

CRISPR-Mediated SRY Gene Mutation Increases the Expression of Female Lineage-Specific Gene in Pre-Implantation Buffalo Embryo.

Autor: Punetha M; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Saini S; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Sharma S; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Thakur S; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Dahiya P; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Mangal M; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Kumar R; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Kumar D; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India., Yadav PS; Animal Physiology and Reproduction Division, ICAR-Central Institute for Research on Buffaloes, Hisar, India.

Publikováno v: Reproduction in domestic animals = Zuchthygiene [Reprod Domest Anim] 2024 Nov; Vol. 59 (11), pp. e14739.

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Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Autor: Politi C; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Grillone K; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Nocera D; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Colao E; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Bellisario ML; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy., Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy., Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy., Perrotti N; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy.; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Località Germaneto, 88100 Catanzaro, Italy., Rodolfo I; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy.; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Località Germaneto, 88100 Catanzaro, Italy., Malatesta P; Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy.

Publikováno v: Genes [Genes (Basel)] 2024 Jan 16; Vol. 15 (1). Date of Electronic Publication: 2024 Jan 16.