Sex linked inheritance, Sex
influenced inheritance and Sex
limited trait
Prof Vandana Rai
Department of Biotechnology
VBS Purvanchal University,
Jaunpur
Humans
• 22 Autosomes
– Chromosomal abnormalities very severe
– Often fatal
• All have at least one X
– Deletion of X chromosome is fatal
• Males = heterogametic sex
– XY
• Females = homogametic sex
– XX
• Some traits are carried on the sex chromosomes, X and Y.
• Most traits carried are present on the X-chromosome.
• The Y-chromosome is smaller, and so, very few genes are located on this
chromosome.
• Sex traits can be categorized into three types of inheritance:
(i)sex-linked (X-linked dominant and recessive traits e. g. color blindness
and hemophilia),
(ii)Sex influenced and
(iii)sex-limited.
Sex--linked Genes
Sex
X chromosome:
•Contains ~1500 genes
• Characters for which genes are located on sex on X
chromosomes are known as sex linked traits.
• Genes controlling these traits are called sex linked genes.
• Inheritance of such genes or characters is known as sex
linked inheritance.
• Genes on the X chromosome are called “sex-linked”,
because they expressed more often in males than in
females.
• X-linked inherited diseases occur more frequently in males
because they only have one X chromosome.
• In contrast, a mutant gene on an X chromosome in a female
is usually covered up by the normal allele on the other X.
Most mutations are recessive. So, most people with sex-
linked genetic conditions are male.
• X linked inheritance may be X - linked dominant or X-linked
recessive.
• Examples- Red Green Colour blindness, Hemophilia,
Duchenne Muscular Dystrophy
• The X chromosome contains over 153 million base pairs, the building
blocks of DNA. In women, the X chromosome represents almost 5% of the
total DNA and in men, who have only one X chromosome, it represents
about 2.5% of the total DNA.
• Some genes on the X chromosome escape X-inactivation.
• Many of these genes are located at the ends of each arm of the X
chromosome in areas known as the pseudoautosomal regions.
• Although many genes are unique to the X chromosome, genes in the
pseudoautosomal regions are present on both sex chromosomes.
• As a result, men and women each have two functional copies of these
genes.
• Many genes in the pseudoautosomal regions are essential for normal
development.
• There are around 1500 genes located on the X chromosome and genetic
research is focused on identifying these genes. These proteins perform a
variety of different roles in the body.
Inheritance of Colorblindness
• A heterozygous female has normal color vision. Sons get their only X from
their mother. So, ½ of the sons of a heterozygous mother are colorblind, and
½ are normal.
• A colorblind male will give his X to his daughters only. If the mother is
homozygous normal, all of the children will be normal.
• However, the daughters will heterozygous carriers of the trait, and ½ of their
sons will be colorblind.
Y chromosome
•Contains ~78 genes
•Majority of genes = Male Specific Region (MSR)
•SRY gene – determines “maleness”
•The Y chromosome is passed from father to son.
•SRY = Sex-determining Region of Y
•A transcription factor (TF)
•TF’s are genes that control the expression of other genes (turn on/off)
•SRY turns on “male” genes
•“Male” genes activate male hormones
•Male hormones (testosterone) end up producing male structures
•Also, destroy female structures
•Example -Hairy Ears
• The Y is one of the smallest chromosomes
in the human genome (∼ 60 Mb)and
represent around 2%–3% of a haploid
genome.
• Cytogenetic observations based on
chromosome-banding studies allowed
different Y regions to be identified: the
pseudoautosomal portion (divided into two
regions: PAR1 and PAR2)and the
euchromatic and heterochromaticregions.
• The Pseudoautosomal regions (PAR): PAR1 is
located at the terminal region of the short
arm (Yp), and the PAR2 at the tip of the long
arm (Yq). PAR1 and PAR2 cover
approximately 2600 and 320 kb of DNA,
respectively.
Schematic representation of the Y chromosome. Genes in
Quintana-Murci and Fellous, 2001.Journal of Biomedicine and the two pseudoautosomal regions (PAR1 and PAR2)as well as those
Biotechnology, 1:18–24 in the nonrecombining Y region (NRY)ar e illustrated
• The pseudoautosomal regions, and in particular PAR1, are where the Y
chromosome pairs and exchanges genetic material with the pseudoautosomal
region of the X chromosome during male meiosis.
• Consequently, genes located within the PAR are inherited in the same manner
as autosomal genes. The euchromatic region is distal to the PAR1 and consists
of the short arm paracentromeric region, the centromere and the long
armparacentromericregion.
• Finally, the heterochromatic region comprises distal Yq corresponding to Yq12.
This region is assumed to be genetically inert and polymorphic in length in
different male populations, since it is composed mainly of two highly
repetitive sequences families, DYZ1 and DYZ2, containing about 5000 and
2000 copies of each respectively.
Quintana-Murci and Fellous, 2001.Journal of Biomedicine and Biotechnology, 1:18 –24
Genes of the human Y chromosome PAR1, PAR2, and NRY.
*Testis-specific genes or families.
Note: All genes expressed specifically in the testis are present in multiple copies dispersed throughout the euchromatic portion of the
Y chromosome. Exceptional is SRY, which is expressed specifically in the testis but present in single copy.
Quintana-Murciand Fellous, 2001.Journal of Biomedicine and Biotechnology, 1:18–24
The term hemizygous is used for X linked
gene in males as they carry only one allele
with regard to sex linked trait.
Pseudo-dominance is phenomenon in
which a single copy of recessive allele is
phenotypically expressed because a second
copy of the gene is absent. This pseudo
dominance found in male in humans.
SRY Gene
• SRY = Sex-determining Region of Y
• A transcription factor (TF)
– TF’s are genes that control the
expression of other genes (turn on/off)
• SRY turns on “male” genes
• “Male” genes activate male hormones
• Male hormones (testosterone) end up
producing male structures
• Also, destroy female structures
• Example -Hairy Ears
Sex--influenced Character/ Sex-
Sex Sex-controlled
character
• 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
What is a sex-
sex-influenced trait?
•Sex-influenced traits are autosomal traits that are influenced by sex. If a
male has one recessive allele, he will show that trait, but it will take two
recessive for the female to show that same trait.
•Sex-Influenced Traits: expressed in both sexes, but they are expressed
differently (Pattern Baldness)
•A sex-influenced trait is a trait controlled by a pair of alleles found on the
autosomal chromosomes (pairs 1 through 22) but it’s phenotypic
expression is influenced by the presence of certain hormones.
Sex-influenced traits can be seen in BOTH sexes, but will vary in frequency
between the sexes, or in the degree of the phenotypic expression.
•An allele is dominant in one sex but recessive in the other sex.
•May be X-linked or autosomal
•Due to hormonal interactions
Sex-Influenced Traits
Some traits appear to be specific to one sex, but are not sex-linked: their genes
are not on the X chromosome.
Such a trait is called sex-influenced. More specifically, a trait that is dominant in
one sex but recessive in the other is a sex-influenced trait.
The best human example is male pattern baldness.
Baldness is dominant in males: heterozygotes and homozygotes both become
bald. In females, baldness is recessive: only homozygotes (which are relatively
rare) become bald. Also, females tend to lose hair more evenly than men, giving
a sparse hair pattern rather than completely baldness.
Pattern Baldness
• Pattern Baldness can occur in both males and females, however it is much
more common in males.
• The combination of alleles for pattern baldness will lead to different
phenotypic expressions depending on the sex of the individual.
Why is this?
Because the pattern baldness trait is influenced by the hormone
testosterone.
For example:
B-represent the non-bald allele
BB genotype: non-bald in both sexes
bb genotype: bald in both sexes
Bb genotype: bald in men; non-bald in females
Pattern Baldness
The “B” allele acts as a
dominant allele in the
heterozygous genotype in
females, but acts as a
recessive allele in the
heterozygous genotype of
the male.
Rheumatoid arthritis
• Rheumatoid arthritis (RR) occurs more often in females than males
due to the presence of estrogen.
• A heterozygous woman marries a heterozygous male.
• RR would cause the condition in both sexes.
• A homozygous recessive, rr, genotype would prevent the disorder in
both sexes
Sex Limited Traits
• Sex-limited traits are traits that are visible only within one sex.
• Genes are inherited from both parents
• Either autosomal or X chromosome
• Yet, affect a structure that is only present in one sex, therefore phenotype
shows a sex “difference”
• A trait that affects a structure or function of the body that is present in
only one of the sexes.
Sex Limited Traits
• Sex limited traits are those characters that are expressed physically in one
sex of a species. These traits are controlled by sex limited genes or
autosomal genes that are expressed only in one sex.
• These genes are present in both sexes of sexually reproducing species.
• Although they are present in both the sexes they are expressed in only
one sex while in the other they remain “turned off”, which means that the
trait has zero penetrance in the other sex.
• Despite having the same genotype, both the sexes show different traits or
phenotypes for these genes.
• These genes are responsible for sexual dimorphism in a given species.
• Sex hormone and other physiological differences between male and
female affect the expression of these genes.
• These traits are primarily concerned with secondary sexual characteristics.
Sex Limited Traits
•These genes enable both the sexes to settle down to their optimal
phenotypes by avoiding the intralocus sexual conflict. This resolves the “push
and pull” between the sexes over the trait.
•The differences in both the sexes can be displayed in size, color, and
morphology.
•Examples
(i)Horns in cattes
(ii)Milk production
Another example is the milk secretion in cattle. Although both sexes carry
the milk controlling genes, only the female cattle secrete milk. The genes that
control milk yield and quality in dairy cattle, for example, are present in both
bulls and cows, but their effects are expressed only in the female cattle.
(iii) The beard in males is a good example in man. Both the males and the
Pedigree Analysis in real life: complications
Sex-limited expression
=> trait only found in males OR females
Sex--limited traits
Sex
•Sex-limited traits are traits that are visible only within
one sex.
•In birds, sex mechanism is ZZ/ZW type (ZZ-male,ZW-
female).
•For instance, barred coloring in chickens normally is
visible only in the roosters (A rooster, also known as
a cockerel or cock, is an adult male chicken(Gallus
gallus domesticus).
•Sex-linked barring is a plumage pattern on individual
feathers in chickens, which is characterized by
alternating pigmented and a pigmented bars.
•The pigmented bar can either contain red pigment
Hackle feathers
(pheomelanin) or black pigment (eumelanin) whereas
Sex--Limited Traits: autosomal traits expressed in
Sex
only one sex (Lion’s mane)
Sex-Limited Traits: autosomal traits expressed in only one sex (Lion’s mane)
Suggested Reading
1. Human Molecular Genetics – Tom Stratchen & Andrew P. Read. Pub:
John Wiley & Sons.
2. An introduction to Genetic Analysis – Griffith, Miller, Suzuki, Lewontin,
Gelbard. Pub: W.H. Freeman & Co.
3. Genomes 2 – T.A. Brown, Pub: Wiley-Liss. John W. & Sons.
4. Emery’s Elements of Medical Genetics– R.F. Mueller, I.D. Young, Pub:
Churchill
5. An Introduction to Human Molecular Genetics – J.J. Pasternak, Pub:
Fitzgerald Science
