Taylor Brewer, Darian Buck, Izabella Castillo, and Justin Hadad

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Taylor Brewer, Darian Buck, Izabella Castillo, and Justin Hadad Sex and Gender Show YOUR HOSTS Taylor Brewer, Darian Buck, Izabella Castillo, and Justin Hadad

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Hormonal Influencers 100 A deficiency in androgen will primarily affect: A mother’s ability to nurse. A male’s testosterone levels. A female’s fertility. B. A male's testosterone levels

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Hormonal Influencers 200 A frameshift mutation in the HSD3B2 gene will most likely result in which of the following: Increased enzymatic activity Complete virilization of males at birth Virilization in females at birth C. Virilization in females at birth

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Hormonal Influencers 300 What might one expect to be shared between a girl with ambiguous genitalia and a boy with an enlarged penis? Low cortisol levels High stress levels (45, X0) karyotype Hypopituitarism B. High stress levels

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Genetic Studies 100 Initial gene responsible for male sex determination: FOXL2 b) SRY c) SOX9 ANSWER: B- SRY

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Genetic Studies 200 The XIST gene silences the expression of other genes on regions of the X chromosome. What basic biological phenomenon is at work here? Answer: EPISTASIS

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Genetic Studies 300 Scientists studied DBX, UTX, and other genes expressed on both the X and Y chromosomes to analyze differential gene expression. Scientists discover that each gene is independently expressed the same amount on each chromosome. What does this mean? The human benefited from equal, normal expression; leading to a mutation that equalized expression on each chromosome The genes on the X chromosome escaped X chromosome inactivation The only way this is possible is through PCR In situ hybridization occurred B

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

potpourri 100 According to Dr. Patrick Harrison, what is the origin of binary gender and sex? ANSWER: in group/ out group

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

potpourri 200 What do we define as “the ability of individual genotypes to produce different phenotypes when exposed to different environmental conditions?” Plasticity

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

potpourri 300 Name four of the seven genes that we discussed that alter one’s identification of gender. ANSWER: RPS4, UT, SMC, XIST, DB, USP9, VC

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Mutations and Atypicalities 100 The common genetic atypicality (45, X0) in a phenotypic female is

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Mutations and Atypicalities 200 An autosomal dominant mutation in the SOX9 gene results in: Testicular DSD with male phenotype Atypicality in genitalia ranging from ambiguity to female phenotypes Klinefelter's Syndrome

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

Mutations and Atypicalities 300 For 100 points each, name three traits of a female with (46, XX) testicular DSD sex atypicality. XX Small testes Male external genitals Presence of SRY

Mutations and Atypicalities ~ c o m e o n d o w n ~ TOPICS Hormonal Influencers Genetic Studies Potpourri Mutations and Atypicalities 100 200 300

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