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    SRY sex determining region Y [ Homo sapiens (human) ]

    Gene ID: 6736, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
    Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K., Free PMC Article

    04/1/2024
    Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.

    Molecular and Functional Characterization of Human Sex-Determining Region on the Y Chromosome Variants Using Protamine 1 Promoter.
    Pathak D, Baksi A, Vasan SS, Dighe RR.

    01/29/2024
    SRY gene isolation from teeth for forensic gender identification-An observational study.

    SRY gene isolation from teeth for forensic gender identification-An observational study.
    Prasad P, Jaber M, Y D, Ramani P, Arafat A, Khairy A., Free PMC Article

    01/10/2024
    An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.

    An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.
    Ha TMT, Le PTQ, Le TNU, Hoang TTY., Free PMC Article

    07/1/2023
    Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.

    Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.
    Ragitha TS, Sunish KS, Gilvaz S, Daniel S, Varghese PR, Raj S, Francis J, Suresh Kumar R.

    02/28/2023
    Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.

    Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
    Racca JD, Chatterjee D, Chen YS, Rai RK, Yang Y, Georgiadis MM, Haas E, Weiss MA., Free PMC Article

    01/14/2023
    SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.

    SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.
    Kherouatou-Chaoui N, Chellat-Rezgoune D, Rezgoune ML, Mc Elreavey K, Touabti LS, Abadi N, Satta D., Free PMC Article

    03/5/2022
    Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

    Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
    Xia J, Wu J, Chen C, Zhao Z, Xie Y, Bai Z, Kong X.

    01/29/2022
    Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.

    Human SRY Expression at the Sex-determining Period is Insufficient to Drive Testis Development in Mice.
    Tsuji-Hosokawa A, Ogawa Y, Tsuchiya I, Terao M, Takada S.

    01/1/2022
    No relationship between SRY variants and risk of Parkinson's disease in Chinese population.

    No relationship between SRY variants and risk of Parkinson's disease in Chinese population.
    Pan H, Wang Y, Zhao Y, Jiang L, Zeng Q, He Y, Fang Z, Wang Z, Xu Q, Sun Q, Tan J, Yan X, Li J, Tang B, Guo J.

    11/13/2021
    Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates.

    Gene Copy Number Quantification of SHOX, VAMP7, and SRY for the Detection of Sex Chromosome Aneuploidies in Neonates.
    Ibarra-Ramírez M, Lugo-Trampe JJ, Campos-Acevedo LD, Zamudio-Osuna M, Torres-Muñoz I, Gómez-Puente V, García-Castañeda G, Arredondo-Vázquez P, Rodríguez-Sánchez IP, Schaeffer SE, Velasco-Sepúlveda BH, Villarreal-Pérez JZ, Martínez-de-Villarreal LE.

    03/6/2021
    Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.

    Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.
    Wang N, Zhu W, Han B, Wang H, Zhu H, Chen Y, Chen Y, Liu J, Liu Y, Zhao S, Song H, Qiao J.

    02/6/2021
    Inhibition of Human Y Chromosome Gene, SRY, Promotes Naive State of Human Pluripotent Stem Cells.

    Inhibition of Human Y Chromosome Gene, SRY, Promotes Naïve State of Human Pluripotent Stem Cells.
    Taleahmad S, Alikhani M, Mollamohammadi S, Yousefi M, Taei A, Hassani SN, Baharvand H, Salekdeh GH.

    09/5/2020
    Gender differences in RANKL expression and bone quality could be due to the sex-specific transcription factor SRY.

    Sex-determining region Y (SRY) attributes to gender differences in RANKL expression and incidence of osteoporosis.
    Kodrič K, Zupan J, Kranjc T, Komadina R, Mlakar V, Marc J, Lovšin N., Free PMC Article

    05/30/2020
    The human Y chromosome specific SRY protein interact with at least 17 proteins encoded on other chromosomes.

    Bioinformatics Annotation of Human Y Chromosome-Encoded Protein Pathways and Interactions.
    Rengaraj D, Kwon WS, Pang MG.

    04/6/2020
    this study identified a prominent Y chromosome loss in male abdominal aortic aneurysms, which is correlated to a lower level of SRY expression

    Y chromosome loss is associated with age-related male patients with abdominal aortic aneurysms.
    Tang D, Han Y, Lun Y, Jiang H, Xin S, Duan Z, Zhang J., Free PMC Article

    12/7/2019
    SRY is a member of the SOX (SRY-like box) family of transcription factors, and is known to both positively and negatively regulate gene expression.

    The Y Chromosome Regulates BMPR2 Expression via SRY: A Possible Reason "Why" Fewer Males Develop Pulmonary Arterial Hypertension.
    Yan L, Cogan JD, Hedges LK, Nunley B, Hamid R, Austin ED., Free PMC Article

    09/21/2019
    results show that the transcriptional factor SRY specifically binds to different sites in the promoter sequence and has the ability to control CATSPER1 gene transcription.

    Regulation of CATSPER1 expression by the testis-determining gene SRY.
    Olivares A, Hernández-Reyes A, Felix R, Forero Á, Mata-Rocha M, Hernández-Sánchez J, Santos I, Aguirre-Alvarado C, Oviedo N., Free PMC Article

    03/30/2019
    Activation of SRY and its downstream Sox9 and PDGFRalpha pathways are commonly involved in male hepatocarcinogenesis, which provides novel insights into gender disparity and sex-specific therapeutic strategies of hepatocellular carcinoma.

    Activation of SRY accounts for male-specific hepatocarcinogenesis: Implication in gender disparity of hepatocellular carcinoma.
    Liu C, Ren YF, Dong J, Ke MY, Ma F, Monga SPS, Wu R, Lv Y, Zhang XF.

    11/25/2017
    a single-nucleotide polymorphism in the amelogenin gene using amplified product-length polymorphisms in combination with sex-determining region Y analysis, is reported.

    Sex Determination from Fragmented and Degenerated DNA by Amplified Product-Length Polymorphism Bidirectional SNP Analysis of Amelogenin and SRY Genes.
    Masuyama K, Shojo H, Nakanishi H, Inokuchi S, Adachi N., Free PMC Article

    08/12/2017
    Missense Mutation 224G>T (R75M) in SRY Coding Region is associated with 46, XY Gonadal Dysgenesis.

    A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
    Fan W, Wang B, He S, Zhang T, Yin C, Chen Y, Zheng S, Zhang J, Li L., Free PMC Article

    07/22/2017
    Chemical proteasome inhibition restored native-like SRY expression and transcriptional activity in association with restored occupancy of a sex-specific enhancer element in principal downstream gene Sox9, demonstrating that the variant SRY exhibits essentially native activity on a per molecule basis.

    Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.
    Racca JD, Chen YS, Yang Y, Phillips NB, Weiss MA., Free PMC Article

    05/27/2017
    SRY is involved in the maintenance of cancer stem-like characteristics through OCT4.

    SRY and OCT4 Are Required for the Acquisition of Cancer Stem Cell-Like Properties and Are Potential Differentiation Therapy Targets.
    Murakami S, Ninomiya W, Sakamoto E, Shibata T, Akiyama H, Tashiro F.

    07/30/2016
    The aim of this study was to compare two Y chromosome markers-SRY and DYS14-for their utility in the diagnosis of fetal gender

    Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.
    Jacob RR, Saxena R, Verma IC.

    07/16/2016
    These findings demonstrate that autosomal retention of SRY can be sub-microscopic and emphasize the importance of PCR and FISH in the genetic workup of the monosomic X male

    An infertile 45,X male with a SRY-bearing chromosome 13: a clinical case report and literature review.
    Peng D, Zhang YS, Zhang XY, Hu C, Liu MH, Liu RZ., Free PMC Article

    09/26/2015
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