BSMT CYTOGENETICS Aug.

20, 2019
SEX CHROMOSOMES AND TRAITS Mr. Sherwin Toriano, RMT MSMT

OUTLINE
I. Sex Chromosomes and Traits
II. Sex Chromosomes vs Autosomes
III. Difference Between Autosomes and Sex
Chromosomes
a. Definition
b. Labelling
c. Availability
d. Homogeneity
e. Position of the Centromere
f. Number of Genes
g. Genetic Disorders
IV. The Y Chromosomes
V. The X Chromosomes
VI. Mutations at several points in the prenatal sexual
development
VII. Traits inherited on sex chromosomes
VIII. X-linked recessive trait
a. Criteria for a Y-linked Recessive Trait
IX. Common Examples of X-linked recessive traits
X. X-linked Dominant Inheritance
a. Criteria for an X-linked Recessive Trait
SEX CHROMOSOMES VS AUTOSOMES
XI. Hermaphroditism
XII. References
SEX CHROMOSOMES AND TRAITS  An allosome (also referred to as a sex
chromosome, heterotypical chromosome,
 Maleness or femaleness is determined at heterochromosome, or idiochromosome) is a
conception, when he inherits and X and a Y heterotypical differs from an ordinary autosome
chromosome, or she inherits two X in form, size, and behavior. The human sex
chromosomes. chromosomes, a typical pair of mammal
 Another level of sexual identity comes from the allosomes, determine the sex of an individual
control that hormones exert over the created in sexual reproduction.
development of reproductive structures.  Autosomes or somatic chromosomes differ from
 Finally, both biological factors and social cues allosomes because autosomes appear in pairs
influence sexual feelings, including the strong whose members of an allosome pair may differ
sense of whether we are male or female. from one another and thereby determine sex.
 Gender differences become apparent around ninth  The chromosomes of the 23rd pair are called
week of prenatal development. allosomes consisting of two X chromosomes in
 During the fifth week, all embryos develop two most females, and an X chromosome and a Y
unspecialized gonads, which are organs that will chromosome in most males. Females therefore
develop as either testes or ovaries. Each such have 23 homologous chromosome pairs, while
“indifferent” gonad forms next two sets of ducts males have 22.
that offer two developmental options.
 If one set of tubes, called the Mullerian ducts,
continues to develop, female sexual structures
form. If the other set, the Wolffian ducts, persist,
male sexual structures form.

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 BSMT CYTOGENETICS Aug. 20, 2019
SEX CHROMOSOMES AND TRAITS Mr. Sherwin Toriano, RMT MSMT

DIFFERENCE BETWEEN AUTOSOMES AND SEX  In meiosis in a male, the X and Y chromosomes
CHROMOSOMES act as if they are a pair of homologs.
DEFINITION
THE Y CHROMOSOME
Autosomes: determine the trait
Sex Chromosomes: determine the gender  Has a very short arm and a long arm at both tips
LABELING are regions, called PAR1 and PAR2, that are
Autosomes: labeled with numbers, from 1-22 “pseudoautosomal” (can cross over with
Sex Chromosomes: labeled with letters as XY, ZW, XO, and counterparts on the X chromosome)
ZO.  The pseudoautosomal regions comprise only 5%
AVAILABILITY of the chromosome and include 63
pseudoautosomal genes
Autosomes: Most of the chromosomes within a genome
Sex Chromosomes: A few of the chromosomes within a  Pseudoautosomal genes control bone growth,
genome cell division, immunity, signal transduction, the
synthesis of hormones and receptors, fertility,
HOMOGENEITY
and energy metabolism
Autosomes: The 22 pairs of autosomes are homologous  Many DNA segments are palindromes or “hall of
in humans
mirrors” organization
Sex Chromosomes: Female sex chromosomes (XX) are
homologous (homomorphic) while male sex  The male-specific region (MSY) is a large central
chromosomes (XY) are non-homologous area comprises about 95% of the chromosome
(heteromorphic). and has only 22 genes
 The SRY transcription factor stimulates male
POSITION OF THE CENTROMERE
development by sending signals to the gonads
Autosomes: The position of the centromere is identical while stimulating development of male
Sex Chromosomes: Since the male sex chromosomes are
structures
heteromorphic, the position of the centromere is not
identical. The position of the centromere in female sex
chromosomes is identical.
NUMBER OF GENES
Autosomes: Contain the number of genes varying from
200-2000. Chromosome 1 which is the largest, carries
about 2800 genes in humans.
Sex Chromosomes: X chromosome contains more genes
than Y chromosome which contains only a few genes.

GENETIC DISORDERS
Autosomes: Autosomal disorders show Mendelian
inheritance.
Sex Chromosomes: Sex-linked disorders show Non-
Mendelian inheritance.
 In humans, males are heterogametic (XY) and
females are homogametic (XX).
 The sex chromosomes differ in size and capacity.
The human X chromosome has more than 1,500
genes and is much larger than the Y chromosome,
which has 231 protein-encoding genes.
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THE X CHROMOSOME
 Present as the 23rd chromosome in the ovum,
while either an X or a Y chromosomes can be
present in an individual sperm
 Human X chromosome has more than 1,500
genes and is much larger than the Y chromosome
 Both sexes always have exactly one functional
copy of the X chromosome in each body cell (one
of the X chromosomes is randomly and
permanently partially deactivated)
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 BSMT CYTOGENETICS
SEX CHROMOSOMES AND TRAITS
MUTATIONS AT SEVERAL POINTS IN THE PRENATAL
SEXUAL DEVELOPMENT
(NOTE: Please refer to the PowerPoint for more
detailed diagram)
TRAITS INHERITED ON SEX CHROMOSOMES
 Y-linked traits are rare because the chromosome
has few genes, and many have counterparts on
the X chromosome. Y-linked traits are passed
from male to male, because a female does not
have a Y chromosome.
 In female, X-linked traits are passed just like
autosomal traits. In males, however, a single copy
of an X-linked allele causes expression of the trait
or illness because there is no copy of the gene on
a second X chromosome to mask the effect. A
man inherits an X-linked trait only from his
mother. The human male is considered
hemizygous for X-linked traits, because he has
only one set of X-linked genes.
X-LINKED RECESSIVE TRAIT
 An X-linked recessive trait is expressed in females
if the causative allele is present in two copies.
Many times, an X linked trait passes from an
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Aug. 20, 2019
Mr. Sherwin Toriano, RMT MSMT
unaffected heterozygous mother to an affected
son. If an X-linked condition is not lethal, a man
may be healthy enough to transmit it to offspring.
CRITERIA FOR AN X-LINKED RECESSIVE TRAIT
1. Always expressed in the male
2. Expressed in a female homozygote and very
rarely in a heterozygote
3. Affected male inherits trait from heterozygote or
homozygote mother
4. Affected female inherits trait from affected
father and affected or heterozygote mother.
COMMON EXAMPLES OF X-LINKED RECESSIVE TRAIT
 Icthyosis- is a family rare genetic skin disorders
characterized by dry, thickened, scaly skin. An
enzyme deficiency blocks removal of cholesterol
from skin cells. The upper skin layer cannot peel
off as it normally does, and appears brown and
scaly.
 Colorblindness or color vision deficiency- is the
inability or decreased ability to see color, or
perceive color differences, under normal lighting
conditions. The most usual cause is a fault in the
development of one or more sets of retinal cones
that perceive color in light and transmit the
information to the optic nerve.
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 BSMT CYTOGENETICS Aug. 20, 2019
SEX CHROMOSOMES AND TRAITS Mr. Sherwin Toriano, RMT MSMT

 Hemophilia- refers to a group of bleeding

disorders in which it takes a long time for the
blood to clot due to the specific deficiency in
clotting factors. Hemophilia is much more
common in males than females because males
are hemizygous.
X-LINKED DOMINANT INHERITANCE

 Dominant X-linked conditions and traits are rare.

Again, gene expression differs between the
sexes. A female who inherits a dominant X-linked
allele or in whom the mutation originates has the
associated trait or illness, but a male who inherits
the allele is usually severely affected because he
has no other allele to mask its effects.
CRITERIA FOR AN X-LINKED DOMINANT TRAIT
1. Expressed in females in one copy
2. Much more severe effects in males
3. High rates of miscarriage due to early lethality in
males
TRUE HERMAPHRODITISM
4. Passed from male to all daughters but not to
sons
 Congenital generalized hypertrichosis- many
extra hair follicles are produced, hence denser
and more abundant upper body hair
HERMAPHRODITISM
 Conditions that involve discrepancies between
external genitalia and internal reproductive
organs
 Also termed as “INTERSEX”
 Referred to as “DISORDERS OF SEXUAL
DEVELOPMENT
 Rare affecting about 1 in 2000 births
- Defined by the presence of both “ovarian” and
“testicular tissues”, either separately or more
commonly, together as “OVOTESTIS”.
- Most have a karyotype of “46,XX)
- True hermaphrodites usually lack “SRY”

MALE FEMALE
TRUE/SEX - Good - Uterus is
ASSIGNME phallic size present
NT - Correctabl with a
e vagina
hypospadia - Sufficient
s ovarian
- Sufficient tissue
testicular
tissue
PSEUDO - 46, XY - 46, XX
Intersex intersex
 Incontinentia pigmenti- in affected females, - Chromoso - Chromoso
mes of mes of
swirls of skin pigment arise when melanin
Man Woman
penetrates the deeper skin layers. - External - External
genitals of genitals of
Female Man

REFERENCE
 Powerpoint

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