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26 Cards in this Set

  • Front
  • Back

Primary determination, presence of Y

Absent: wnt4, Rspo1, bcatenin


Present: sry, sox9, fgf9

Rspo1 stimulates

wnt pathway and bcatenin sythesis:




-initiates ovary differentiation


-prevents accumulation of sox9


no wnt = males

wnt4

first expressed in genital ridges of both sexes


later not detectable in males


without it ovaries do not form



XY with duplicated wnt and rspo1 genes

bcatenin pathway overides sry/sox9


become female

Bcatenin

activates ovarian transcription factors


estrogen receptors form on ovaries

Bipotential gonad

wnt is expressed, regulates Dax1


wnt is downregulated by xy


maintained by xx

Dax1

located on x chromosome


initially expressed in both sexes


dax1 and sry overlap, in females this eventually becomes only dax1


antagonizes sry sox9 sf1

Sry

sex determining region of y chromosome


short arm


activates sox9, sf1


found in gonad before testi differentiation

xx with sry

develops gonads

sox9

autosomal


found in most vertebrates


xx with extra sox9 become males


one copy missing in xy -most are female or herm

sox9 roles

activates its own transcription


blocks bcatenin


activates genes necessary for testis formation


activates AMF


activates some FGF

FGF9

sry needed for migration of mesonephric cells and sterioli induction


FGF9 is also needed


most likely regulated by sry or sox9

SF1

steroidogenic factor 1 - forms bipotential gonad


later downregulated in females


regulates sf1 and amh


with sry upregulates sox9

Secondary sex determination

1. phase one in fetus


2. puberty

Default sex is

female, even without ovaries


male require two hormones AMH and testosterone

Location of wnt

in genital ridge activates female pathway


in genital tubercule activates male

Testosterone and DHT

testosterone - before birth - internal genitilia


DHT - external genitilia


Conversion dependent on 5ARD


used in puberty for 2nd wave

5alpha reductase 2 deficiency

inherited


can convert testosterone to DHT

androgen insensitivity syndrome

complete or partial, genetic


XY, testes, synthesize testosterone, female brain


young - beautiful female, becomes a male with defects


second pathway -no testosterone receptor


functional androgen receptors needed for full masculinization

Estrogen

needed for development of mullarian and wolffian ducts


sperm cannot be made without it - wrong concentration


concentration high in rete testes


F: derived in ovary, sufficient



Hemaphrodites

ovarian and testicular tissues present


1. ovary at one side, testes at other


2. ovotestes - both tissues in one gonad


Causes:


late sry activation


translocation of sry to x chromosomes

pseudohermaphrodites

only one type of gonad


secondary sex characteristics are opposite

Regulation of brain sex

difference may be apparent before gonads are formed


sry expression in brain


over 50 genes expressed before gonad differentiation


high aromatase in sheep oSDN, small oSDN in gay sheep

Male brain development

testosterone to brain and converted to estradiol by aromatase


estrogen binds to receptors to mascularize neural circuits and defeminize

Female brain development

alpha feto protein binds to estradiol


prevents it from entering the brain

sex determination in drosophila

drosophila - xy and 3 pairs of autosomes


start increasing in size and become polyploid


balance of female determinants on x and male determinants on autosomes SEX LETHAL GENE


y chromosome is only important for sperm formation


xo males - sterile