Chapter 5 – Sex Determination and Gametogenesis

BIO. SCI. 10 - Developmental Biology

Cristel Joy C. Mallari

Instructor I
Overview
A. Chromosomal Sex Determination
B. The Mammalian Pattern of Sex Determination
C. Environmental Sex Determination
D. Mammalian Gametogenesis
A. Chromosomal Sex Determination
Chromosomal Sex Determination
• In mammals… • In flies…
• presence of either a • Y chromosome plays no role,
second X chromosome but the number of X
or a Y chromosome – chromosomes
female or male • Other insects…
• In birds… • Fertilized diploid – females
• males (ZZ), females (ZW) • Unfertilized haploid - males
Chromosomal Sex Determination
Mammals Flies (Drosophila)
• Sry gene on Y chromosome • number of X chromosomes –
• transforms bipotential Sxl gene
gonad into testis • differential splicing of
• Inheritance of 2 X nRNAs into male/female-
chromosomes - β-catenin - specific mRNAs
ovary
In mammals…
• Testes
• Testosterone – builds male phenotype
• Anti-Müllerian hormone- blocks female phenotype
• Ovaries
• Estrogen – female phenotype
• Progesterone – to maintain pregnancy
B. The Mammalian Pattern of
Sex Determination
Mammalian Sex Determination
• gonad-forming genes + hormones elaborated by
gonads
• Primary sex determination
• the determination of gonads (ovary & testes)
• Secondary sex determination
• male or female phenotype by the hormones produced by
the gonads
Bipotential Gonad
• “Indifferent gonad”
• Gonad formation – an
active and gene-direct
process
• common precursor of the
male and female gonads
FIGURE 6.1 Development of gonads and their ducts in mammals.
Originally, a bipotential (indifferent) gonad develops, with undifferentiated
Müllerian ducts (female) and Wolffian ducts (male) ducts both present. If
XY, the gonads become testes and the Wolffian duct persists. If XX, the
gonads become ovaries and the Müllerian duct persists. Hormones from
the gonads will cause the external genitalia to develop either in the male
direction (penis, scrotum) or the female direction (clitoris, labia majora)
Sex Determination in Placental Mammals
• Each individual must carry X
• Females (XX)
• each haploid egg – X chromosomes
• Males – (XY)
• Generates two populations of
haploid sperm
• Y Chromosome gene – “testis-
determining factor”
Postulated cascades leading to male and
female phenotypes in mammals
C. Environmental Sex Determination
Environmental Sex Determination
• Temperature, location, and the presence of other
members of the species
• Temperature-dependent sex determination
• Reptiles (turtles and crocodylians)
• Temperature of the eggs – deciding factor
 Temperature-dependent sex
determination in three
species of reptiles: the
American alligator (Alligator
mississippiensis), red-eared
slider turtle (Trachemys
scripta elegans), and alligator
snapping turtle (Macroclemys
temminckii).
D. Mammalian Gametogenesis
Gametogenesis
• Formation of gametes (sperm and egg)
• Mammalian primordial germ cells (PGCs)
• embryonic precursors of sperm and egg that pass on
genetic and epigenetic information from one generation
to the next
• “Bipotential”
• Reside in ovaries – egg
• Reside in testes – sperm
Spermatogenesis
• Developmental 1. A proliferative phase where
pathway from germ sperm stem cells (spermatogonia)
cell to mature sperm increase by mitosis.
• Begins at puberty, 2. A meiotic phase, involving the
two divisions that create the haploid
occurs in the recesses state.
between the Sertoli
cells 3. A postmeiotic “shaping” phase
called spermiogenesis, during which
• 3 phases the round cells (spermatids) eject
most of their cytoplasm and become
the streamlined sperm
Sperm maturation
 Proliferative phase
• Begins when PGCs arrive at the genital ridge
• Gonocytes -> undifferentiated spermatogonia
• Stem cell niche –
• Sertoli cells – nourish developing sperm
• Leydig cells – testosterone-producing
• SC mitotic division – differentiating spermatogonia (Type A)
• >1000 sperm per second in adult human males
Meiotic phase: Haploid Spermatids
• Glial cell line-derived neurotrophic factor (GDNF,
paracrine) – by Sertoli cells and myoid cells
• Keeps spermatogonia dividing as SC
• Puberty retinoic acid activates Stra8 TF, BMP8b
paracrine
• Instruct spermatogonia to produce receptors for stem
cell factors (SCF) – promotes transition to
spermatogenesis
Meiotic phase: Haploid Spermatids
• Spermatogonia – Stra8 + SCF -> type B spermatogonia
• Precursors of the spermatocytes
• Last cell line that undergo mitosis
• Divide once, primary spermatocytes (cells enter
meiosis)
• 1st meiotic division – pair of secondary spermatocytes
• Haploid cells – spermatids, connected thru
cytoplasmic bridges
Formation of syncytial
clones of human male
germ cells.
“As the spermatids move toward border of
the lumen, they lose their cytoplasmic
connections and differentiate into
spermatozoa.”

In humans, the progression from

spermatogonial stem cell to mature
spermatozoa take 65 days.
Spermiogenesis / Spermateliosis
• Spermatid – round, unflagellated cell
• “The differentiation of the sperm cell”
• Prepares the sperm for motility and interaction
• Acrosome, flagellum formations
• Nucleus flattens and condenses
• Cytoplasm is jettisoned
• Histone replacements
Oogenesis
• Differs greatly from spermatogenesis
• the process of development of female gametes
• Egg mature via intricate coordination of:
• Hormones
• Paracrine factors
• Tissue anatomy
Oogenesis
• Stage of proliferation
• PGCs move to the developing ovary and divide rapidly
• 7 million oogonia, most die but the surviving
population (+ retinoic acid) can proceed and initiate
1st meiotic division – primary oocyte
• Dictyate resting stage – prolonged diplotene stage
• During puberty, meiosis resumes
Luteinizing Hormone (LH)
• Pituitary gland
• Blocks and permits oocytes to resume meiosis
• This LH surge causes the oocyte to mature
• proteins that make it competent to fuse with the sperm
• enables first cell division of the embryo
• Follicle cells - activate the translation of stored oocyte
mRNA-encoding proteins
After the secondary oocyte is released from
the ovary, meiosis II will resume only if
fertilization occurs.

At fertilization…
calcium ions are released in the egg, and these
ions release the inhibitory block and allow the
haploid nucleus to form.
Oogenic Meiosis
• When the primary oocyte divides, its nuclear
envelope, breaks down, and the metaphase spindle
migrates to the periphery of the cell – asymmetric
cytokinesis
• At 1st Telophase
• First polar body – contains hardly any cytoplasm
• Secondary oocyte – retains nearly entire volume of
cellular constituents
Oocytes and Age
• retention of the oocyte in the
ovary for decades has
profound medical implications
• Aneuploidy (incorrect number
of chromosomes)
• Women at 20s – 2-3% chance,
extra chromosomes
• 35% chance – women at 40s