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    Sry Sex Determination

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    Sry Sex Determination

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    sry sex determination

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    140 views15 pages

    Sry Sex Determination

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    api-528179516

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    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 15

    SRY: Sex Determination

    By: Sierra Megonnell & Kyle Lovisone


    SRY Gene:
    ● Gene ID - 6736
    ● Located on the Male Y Sex Chromosome
    ○ Except in XX Males (On X Chromosome)

    ● Intron-Less Region
    ● Highly Conserved
    SRY Gene Location:
    ● Yp11.2
    ○ Y Chromosome
    ○ Shorter Arm
    ○ 11.2 Location
    ● Rare to Cross Over Here
    ● PAR Region Crosses Over
    SRY Product Function:
    ● Testis Determining Factor (TDF) Protein is Produced
    ○ Transcription Factor
    ■ In DNA-Binding Protein Family
    ○ Initiates Male Differentiation in a Developing Fetus
    ○ Prevents Female Reproductive Structure Growth
    Importance of Gene:
    ● Codes for Testis-Determining Factor
    ○ Causes Fetus to Develop Male Gonads
    ○ Prevents Development of Female Reproductive Organs
    ● Initiates the Sex Determination
    ○ 6-8 Weeks of Life
    ● Without SRY Gene:
    ○ No Male Development
    ○ There would only be Females
    Gene Mutations Results:
    ● Swyer Syndrome
    ○ Females with XY Sex Chromosomes

    ● XX Male Syndrome
    ○ Male with XX Sex Chromosomes
    Swyer Syndrome:
    ● Females Experience
    ○ Gonadal Dysgenesis
    ○ XY Sex Chromosomes

    ● Caused by Mutations
    ● Women are Sterile
    ○ Cannot Produce Ova
    ○ Cannot Pass on Disease
    XX Male Syndrome:
    ● Males Experience
    ○ XX Sex Chromosomes

    ● Caused by Translocation
    ○ Part of Y Chromosome Containing SRY
    ○ Becomes Part of X Chromosome

    ● Fertile
    Pattern of Inheritance of Phenotype:
    ● SRY Gene is Inherited by Males
    ○ On Y-Chromosome

    ● No Specific Pattern For Mutations


    ○ Only Male Carriers
    ○ Sporadic and Random Cases
    ○ Many Cases only Impact one Family Member
    Pedigree:
    ● Studies Show Both Autosomal & Sex-Linked
    Alternative Splicing and mRNA
    ● No Alternative Splicing
    ○ Intronless Gene
    ○ SRY Only Codes for 1 Protein

    ● One mRNA Used


    ○ 828 bp long
    Homologous Sequences:
    ○ P.troglodytes (Chimpanzee)
    ■ Sequence Similarity: 98.8%
    ■ Gene is 910 bp long
    ○ B.taurus (Cattle)
    ■ Sequence Similarity: 70.3%
    ■ Gene is 690 bp long
    ○ M.musculus (House Mouse)
    ■ Sequence Similarity: 68.5%
    ■ Gene is 1188 bp long
    3D Protein Structure

    ○ https://www.ncbi.nlm.nih.gov/Structure/icn3d/full.html?&mmdbid=162278&bu=0&showanno=1
    QUESTIONS?
    References:
    ● 1HRY: THE 3D STRUCTURE OF THE HUMAN SRY-DNA COMPLEX SOLVED BY MULTI-DIMENSIONAL HETERONUCLEAR-EDITED AND-
    FILTERED NMR. (n.d.). Retrieved October 31, 2019, from https://www.ncbi.nlm.nih.gov/Structure/pdb/1HRY.
    ● Bagci, G., Bisgin, A., Karauzum, S., Trak, B. and Luleci, G. (2019). Retrieved October 31, 2019. Complete gonadal dysgenesis 46,XY (Swyer syndrome)
    in two sisters and their mother’s maternal aunt with a female phenotype. [online] Fertstert.org. Available at:
    https://www.fertstert.org/article/S0015-0282(10)02836-0/pdf
    ● Can a Turner syndrome patient develop male characteristics artificially? (1966, May 1). Retrieved October 31, 2019, from
    https://biology.stackexchange.com/questions/43872/can-a-turner-syndrome-patient-develop-male-characteristics-artificially?noredirect=1&lq=1.
    ● Halmeck, W. (2019). Retrieved October 31, 2019. How is it possible that the SRY gene could end up on the X chromosome or be missing from the Y
    chromosome?. [online] Quora.com. Available at:
    https://www.quora.com/How-is-it-possible-that-the-SRY-gene-could-end-up-on-the-X-chromosome-or-be-missing-from-the-Y-chromosome
    ● HomoloGene - NCBI. (n.d.). Retrieved October 31, 2019, from https://www.ncbi.nlm.nih.gov/homologene?
    LinkName=gene_homologene&from_uid=6736.
    ● Isidor, B., Capito, C., Paris, F., Baron, S., Corradini, N., Cabaret, B., … Le Caignec, C. (2009, September). Familial frameshift SRY mutation inherited
    from a mosaic father with testicular dysgenesis syndrome. Retrieved October 31, 2019, from https://www.ncbi.nlm.nih.gov/pubmed/19531589.
    ● ss, N. L. J., Yang, J., Sargent, C. A., Boucher, C. A., Nanko, S., Wadekar, R., … Crow, T. J. (2001, October 1). Triplication of several PAR1 genes and part
    of the Homo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia. Retrieved October 31, 2019,
    from https://jmg.bmj.com/content/38/10/710.
    ● Sarafoglou, Kyriakie & Ostrer, Harry. (2000). Retrieved October 31, 2019. Familial Sex Reversal: A Review. The Journal of Clinical Endocrinology &
    Metabolism. 85. 483-493. 10.1210/jcem.85.2.6418.
    ● SRY sex determining region Y [Homo sapiens (human)] - Gene - NCBI. (n.d.). Retrieved October 31, 2019, from https://www.ncbi.nlm.nih.gov/gene/?
    term=6736.

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