Module 6 Problem_ Sex Determination

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Dec 6, 2023

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Leo Majeed Bio 351- Nov 22, 2023 Module 6 Problems - Sex Determination 1) Protein Produced: DMRT1 (Doublesex and Mab-3-related transcription factor 1) encodes a protein that belongs to the DMRT (Doublesex and Mab-3-related transcription factor) family. DMRT proteins are involved in sex determination and differentiation. Reference: Raymond, C. S., & Murphy, M. W. (2014). Oviparous vertebrates: model systems for studying sex determination and differentiation. Current topics in developmental biology, 109, 459-485. 2) Chromosome Location: The DMRT1 gene is located on chromosome 9 in mice. Reference: Hacker, A., Capel, B., Goodfellow, P., & Lovell-Badge, R. (1995). Expression of Sry, the mouse sex determining gene. Development, 121(6), 1603- 1614. 3) Pathway and Role in Sex Determination: DMRT1 is involved in the sex determination pathway and plays a crucial role in the development of male reproductive organs. It is expressed in the developing gonads and is essential for testis development in mammals. DMRT1 promotes the differentiation of the bipotential gonad into a testis
by suppressing ovarian development. Reference: Matson, C. K., & Zarkower, D. (2012). Sex and the singular DM domain: insights into sexual regulation, evolution and plasticity. Nature Reviews Genetics, 13(3), 163-174. 4) Mutations in Humans and Phenotype: Mutations in the DMRT1 gene in humans are associated with disorders of sex development (DSD). DSD refers to conditions where the development of chromosomal, gonadal, or anatomical sex is atypical. Mutations in DMRT1 can lead to a range of phenotypes, including male-to-female sex reversal, ambiguous genitalia, and gonadal dysgenesis. Reference: Bashamboo, A., Ferraz-de-Souza, B., Lourenço, D., Lin, L., Sebire, N. J., Montjean, D., ... & Achermann, J. C. (2016). Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. American Journal of Human Genetics, 92(6), 1074-1081.
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