Cleo Mel P.

Villanueva ► SEX CHROMOSOME | SEX

9 – Rizal (STAR) DETERMINATION | GENETICS |
IMPORTANT TOPIC | ALL BIOLOGY
EXAM

Gender and Genetics

Genetic Components of Sex and Gender

Humans are born with 46 chromosomes in 23 pairs. The X and Y chromosomes determine a person’s sex. Most women are 46XX and most men are
46XY. Research suggests, however, that in a few births per thousand some individuals will be born with a single sex chromosome (45X or 45Y) (sex
monosomies) and some with three or more sex chromosomes (47XXX, 47XYY or 47XXY, etc.) (sex polysomies). In addition, some males are born 46XX
due to the translocation of a tiny section of the sex determining region of the Y chromosome. Similarly some females are also born 46XY due to
mutations in the Y chromosome. Clearly, there are not only females who are XX and males who are XY, but rather, there is a range of chromosome
complements, hormone balances, and phenotypic variations that determine sex.

The biological differences between men and women result from two processes: sex determination and differentiation.(3) The biological process of sex
determination controls whether the male or female sexual differentiation pathway will be followed. The process of biological sex differentiation
(development of a given sex) involves many genetically regulated, hierarchical developmental steps. More than 95% of the Y chromosome is male-
specific (4) and a single copy of the Y chromosome is able to induce testicular differentiation of the embryonic gonad. The Y chromosome acts as a
dominant inducer of male phenotype and individuals having four X chromosomes and one Y chromosome (49XXXXY) are phenotypically male. (5)
When a Y chromosome is present, early embryonic testes develop around the 10th week of pregnancy. In the absence of both a Y chromosome and
the influence of a testis-determining factor (TDF), ovaries develop.

Gender, typically described in terms of masculinity and femininity, is a social construction that varies across different cultures and over time. (6)
There are a number of cultures, for example, in which greater gender diversity exists and sex and gender are not always neatly divided along binary
lines such as male and female or homosexual and heterosexual. The Berdache in North America, the fa’afafine (Samoan for “the way of a woman”) in
the Pacific, and the kathoey in Thailand are all examples of different gender categories that differ from the traditional Western division of people
into males and females. Further, among certain North American native communities, gender is seen more in terms of a continuum than categories,
with special acknowledgement of “two-spirited” people who encompass both masculine and feminine qualities and characteristics. It is apparent,
then, that different cultures have taken different approaches to creating gender distinctions, with more or less recognition of fluidity and complexity
of gender.

SEX DETERMINATION
1. In mammals, primary sex determination (the determination of
gonadal sex) is a function of the sex chromosomes. XX individuals
are females, XY individuals are males.
2. The Y chromosome plays a key role in male sex determination.
XY and XX mammals both have a bipotential gonad that makes
the primary sex cords. In XY animals, these cords continue to be
formed within the gonad, and eventually differentiate into the
Sertoli cells of the testes. The interstitial mesenchyme becomes the
Leydig cells.
3. In XX individuals, the internal sex cords degenerate, and a
second set of cortical sex cords emerges. These remain on the
periphery of the gonad. Germ cells enter the sex cords, but will
not be released from the gonad until puberty. The epithelium of
the sex cords becomes the granulosa cells; the mesenchyme
becomes the thecal cells.
4. In humans, the SRY gene is the testis-determining factor on the
Y chromosome. It synthesizes a DNA-binding protein that is
thought to compete with the DAX1 protein. It is thought that if SRY
is produced at a high enough level, it activates (either directly or
indirectly) the SF1 gene and inhibits the WNT4 gene.
5. The SF1 product is believed to activate the SOX9 gene, as well as
several other genes involved in synthesizing steroid hormones and
anti-Müllerian duct hormone (AMH). SOX9 may organize the
genital ridge epithelium to form testes, but the corresponding
ovary-forming genes have not yet been found, although the WNT-
4 gene may be important in this regard.
6. Secondary sex determination in mammals involves the hormones produced by the
developing gonads. Under estrogenic stimulation, the Müllerian duct differentiates into the
oviducts, uterus, cervix, and upper portion of the vagina. In male mammals, the Müllerian
duct is destroyed by the AMH produced by the Sertoli cells, while the testosterone
produced by the Leydig cells enables the Wolffian duct to differentiate into the vas
deferens and seminal vesicle. In female mammals, the Wolffian duct degenerates because
of the lack of testosterone.
7. The conversion of testosterone to dihydrotestosterone in the genital rudiment and
prostate gland precursor enables the differentiation of the penis, scrotum, and prostate
gland.
8. Individuals with mutations of these hormones or their receptors may have a distinction
between their primary and secondary sex characteristics.
9. In Drosophila, sex is determined by the ratio of X chromosomes to autosomes, and the Y
chromosome does not play a role in sex determination. There are no sex hormones, so
each cell makes a sex determination decision.
10. The Drosophila Sxl gene is activated in females (by proteins encoded on the X
chromosomes) and is repressed in males (by factors encoded on the autosomes). Sxl
protein acts as an RNA splicing factor to splice an inhibitory exon from the tra transcript.
Therefore, female flies have an active Tra protein, while males do not.
11. The Tra protein also acts as an RNA splicing factor to splice exons of
the doublesex transcript. The doublesex gene is transcribed in both XX and XY cells, but its
pre-mRNA is processed to form different mRNAs, depending on whether Tra is present. The
proteins translated from both messages are active, and they activate or inhibit
transcription of a set of genes involved in producing the sexually dimorphic traits of the
fly.
12. In turtles and alligators, sex is often determined by the temperature during the time of
gonad determination. Since estrogen is necessary for ovary development, it is possible
that differing levels of aromatase (the enzyme that can convert testosterone into estrogen)
distinguish male from female patterns of gonadal differentiation.
13. In some species, such as Bonellia and Crepidula, sex determination is brought about
by the position of the individual with regard to other individuals of the same species.
 Sex linked Traits
 Sex linked inheritance is traits carried in either the X or the Y chromosome.
 A trait that is due to genes present on the X chromosome is more likely to be
expressed in males as they have only one X chromosome.
 The presence of two X chromosomes in females can suppress its expression
when one of them has the genes for the trait and the other does not.
 X linked traits fall under many categories like recessive, dominant and co-
dominant which influence their expression in members of both the sexes.
 A trait due to a gene in the Y chromosome will only show in males and not in
females.

Examples
 Sex limited Traits
 Sex-limited genes are genes which are present in both.
 These are genes that occur in both sexes (probably on the autosomes) but are normally expressed
only in the gender having the appropriate hormonal determiner (activator).
 Throughout the pedigree the trait appears in only one sex, but it need NOT occur in all
member of that sex.
 The genes for the trait can be carried and transmitted by the opposite sex although it is NOT
displayed in that sex because of anatomical or physiological differences.

Examples
 Sex influenced Traits
 Sex-controlled character, also called Sex-influenced Character, a genetically
controlled feature that may appear in organisms of both sexes but is expressed to a different
degree in each.

 Sex-influenced traits are autosomal traits that are influenced by sex.

 The character seems to act as a dominant in one sex and a recessive in the other. Sex-
controlled character, also called Sex-influenced Character, a genetically controlled feature that
may appear in organisms of both sexes but is expressed to a different degree in each.
 The character seems to act as a dominant in one sex and a recessive in the other.

Examples
Cleo Mel P. Villanueva
9 – Rizal (STAR)

Science
Ma’am Irene Ignacio