LECTURE 2
GENETIC AND ENVIRONMENTAL SEX DETERMINATION


I. Introduction

a. What defines male and female?

  • Male= capacity to produce sperm (spermatogenesis)--possessing testes



  • Female=capacity to produce ovum (oogenesis)--possessing ovaries




    b. Two ways sex is determined in vertebrates

  • Genetic sex determination (by genes)



  • Environmental sex determination (not by genes but by environmental influences)





    II. Genetic sex determination

    a. Sex chromosomes

  • Heterogametic and homogametic chromosomes

    -heterogametic -- if the pair of sex chromosomes is different (e.g., XY)




    -homogametic -- if the pair of sex chromosomes is same (e.g., XX)




    -XX/XY (if male is heterogametic)--mammals, amphibians, some fishes



    -ZZ/ZW (if female is heterogametic)--reptiles, birds, some fishes





    b. Mechanism of sex determination by genes

  • Male-determining genes

    -SRY (Sex-determining Region of the Y chromosome)--on Y chromosome

    *codes for a protein TDF (testis-determining factor)



    *HMG (high mobility group) protein that binds and bends DNA



    *required for testes formation in mammals

    XX female + SRY-->XX' male



    -SOX9 gene--on autosome

    *also codes for a HMG protein



    *appears to be activated by SRY



    *required for testes formation in ALL vertebrates

    XX female + Xtra copy of SOX9-->XX' male



    -SF1 gene--on autosome

    *a transcription factor



    *required for formation of bipotential gonads and maintenance of testes once formed

    XX male - SF1 --->abnormally formed testis (can't make testosterone)



  • Female-determing genes

    -Dax 1--on X chromosome

    *a transcription factor (orphan receptor)



    *required for formation of ovaries



    *antagonizes the action of SRY and SF1

    XY male + Xtra copies of Dax 1 --> X'Y female (duplicated X)



    -Wnt4--on autosome

    *a transcription factor



    *required for formation of ovaries



    *inhibited by SRY in males

    XX female -Wnt4 -->abnormal ovaries with male features (make male proteins and hormones)




    c. Abnormal nondisjuction of sex chromosomes

  • Abnormality in humans

    -XXY (Klinefelter's syndrome)--male, mental retardation, sterile, female features




    -XO (Turner's syndrome)--female, no mature gonad, sexually infantile




    -XXX (superfemale)--superfemale, usually sterile




  • Regular features in other animals retained through evolution

    -XXY male and XXXX females in spiny anteaters




    -XO male and XO female in European mole rat and Japanese spiny rat and some other rodents. One X has SRY (male) and one doesn't (female)




    -XY females in some Eurasian wood lemmings

    *X-linked gene inhibits testes formation--leading to more females than males in the population




    III. Environmental sex determination

    a. Temperature-dependent sex determination

  • Mechanism

    -very complex. Mostly involves synthesis of estrogen and receptors at a particular temperature.

    Temperature F -->female gonad

    Temperature M -->male gonad

    Intermediate temperature-->50/50 male/female




    -probably an estrogen-driven event.




  • Some examples

    -turtles

    *lower temperature = males



    *in green sea turtles, position of eggs in the clutch determines the sex (center warmest)




    -crocodiles and alligators

    *lower temperature = female



    *choice of nest is very important and can skew sex ratio up to 10:1



    -lizards (one giving birth to live youngs)

    *Southern water skink



    *bask to regulate body temperature to produce 1:1 sex ratio




    -some fishes and amphibians (less known)




  • Implications

    -endocrine disruptors

    *many act as estrogen mimics



    *DDT, dicofol, phytoestrogens (from soy and legumes)



    *can alter sex ratio-->population dynamics-->extinction



    *can also cause abnormal gonadal development



    -global warming

    *higher long-term temperature results in skewed sex ratio



    b. Social factors

  • Sex-changing fish

    -Australian cleaner wrasses

    *lives in groups of 1 male:6 females



    *remove male-->1 female becomes male



    *female-->male (protogynous)




    -Anemone fish

    *one monogamous breeding pair in colony (rest nonbreeding)



    *remove breeding female-->breeding male becomes breeding female, and nonbreeding males becomes mature



    *male-->female (protandrous)