Sex Linkage

Genes linked to the sex

chromosomes
 Linked genes

 Genes for different characters inherited

as if they were a single character
 These genes are called LINKED GENES

 That is the LOCI for these genes are

linked on the same chromosome.
 Sex linkage explained
http://nobelprize.org/nobel_prizes/medicine/articles/lewis/index.html

Thomas
Hunt
Morgan
in
The Fly Room! (Columbia University 1910)
 Sex linkage explained
Fruit Flies (Drosophila melanogaster)
 Drosophila characteristics
sex comb on
the tarsus of a
fore leg

Female wild type Male vestigial wing

 The case of the white-eyed
mutant
Character Traits
Eye colour Red eye (wild type)
White eye (mutant)

P Phenotypes
Wild type (red-eyed) female x White-eyed male

F1 Phenotypes All red-eyed

Red eye is dominant to white eye.

 Hypothesis

A cross between the F1 flies should give us: 3 red

eye : 1 white eye

F2 Phenotypes Red eye White eye

Numbers 3470 782

82% 18%

So far so good…
 An interesting observation

F2 Phenotypes Red- Red- White- White-

eyed eyed eyed eyed
males females males females
Numbers 1011 2459 782 0
24% 58% 18% 0%
 A reciprocal cross

Morgan tried the cross the other way round

white-eyed female x red-eyed male

Result
All red-eyed females and all white-eyed males

This confirmed what Morgan suspected

The gene for eye colour is linked to the X chromosome.
 A test cross

Phenotypes F1 Red-eyed female x White-eyed male

Expected result
50% red-eyed offspring : 50% white-eyed offspring
Regardless of the sex

Observed Results
Red-eyed Red-eyed White-eyed White-eyed
Males Females Males Females

132 129 86 88
 Genetic diagram for sex linked genes
Character Trait Alleles
Eye colour Red eye R
White eye r

Genotypes Phenotypes
XRXR
XRXr
XrXr
XRY
XrY
 Genetic diagrams for sex linked genes
Character Trait Alleles
Eye colour Red eye R
White eye r

Genotypes Phenotypes
XRXR Red-eyed female
XRXr Red-eyed female
XrXr White-eyed female
XRY Red-eyed male
XrY White-eyed male
 Genetic diagrams for sex linked genes

P Phenotypes Wild type x White-eyed

(red-eyed) male
female
Genotypes XRXR XrY

Gametes XR XR Xr Y
Fertilisation Xr Y
XR XRXr XRY
XR XRXr XRY
 Genetic diagrams for sex linked genes

F1 Phenotypes Red-eyed x Red-eyed

female male
Genotypes XRXr XRY

Gametes XR Xr XR Y

Fertilisation XR Y
XR XRXR XRY
Xr XRXr XrY
 F2 Phenotypes Females Males
Red- White- Red- White-
eyed eyed eyed eyed
Expected All None 50% 50%
Observed 2459 0 1011 782

This gene has its LOCUS on the X-chromosome

It is said to be SEX-LINKED.
 X-linked genes
 In sex linked characteristics the reciprocal crosses
do not give the same results
 For X-linked genes fathers do not pass the mutant
allele onto their sons
 For X-linked genes fathers pass the mutant allele
onto their daughters who are carriers
 Carrier mothers may pass the allele onto their sons
(50% chance)
 Females showing the trait for an X-linked mutant
allele can exist but they are rare
 Female carriers may show patches of cells with
either trait due to X chromosome inactivation.
Tortioseshell
Cats are
Female
 Daltonism = Red-Green
Colourblindness

Normal vision Colour blind simulation

www.onset.unsw.edu.au/.../colourblindness.htm
 LIGHT
The retina

Optic
nerve
fibres Ganglion layer

Bipolar cells
(neurones)
Synapse layer
Rod cell
Nuclear layer

Inner segments packed with

Cone
mitochondria
cell
Rod and cone outer
segments
 PHOTORECEPTION
VISION COLOUR MONOCHROME
PHOTORECEPTOR CONES: RODS: max. sensitivity
red sensitive 560nm 505nm
green sensitive 530nm
blue sensitive 420nm
DISTRIBUTION Concentrated in the fovea Widely spread over whole
retina, absent from fovea
PIGMENTS 3 proteins controlled by 3 genes. RHODOPSIN = Retinol
Red and green pigments sex linked (Vit A) + Opsin (a protein).
Blue pigment autosomal (Chr.7) Also called visual purple
BLEACHING Slow Fast (very sensitive)
REGENERATION Slow (after images in bright light, Fast
complementary colours)
USE Daylight vision Night vision
Light adaptation 5 min Dark adaptation 20 min or
wear red goggles!
 Blood Clotting and Hemophilia

A simplified scheme of the important steps

Damaged blood vessels

Prothrombin Thrombin
Inactive enzyme Active enzyme

Fibrinogen Fibrin = Clot

Globular protein Fibrous protein
 Contact with collagen fibres
in blood vessels
Factor III
Thromboplastin released
from blood vessel walls
Factor XII (inactive)  Factor XII (active)

Factor XI (inactive)  Factor XI (active)

Factor IX (inactive)  Factor IX (active)

Antihemophilic factor B
Factor VIII
Antihemophilic factor A
Factor X (inactive)  Factor X (active)

Ca2+ ions and blood platelets

Factor II (inactive)  Factor II (active)
Vitamin K precursor Prothrombin Thrombin

Factor I (inactive)  Factor I (active)

Fibrinogen Fibrin
 The antihemophilic factors

 The blood clotting reaction is an enzyme

cascade involving Factors XII, XI, IX, X and II
 Each of these enzymes are proteases that cut
the next protein in line
 Other factors including proteins like Factor VIII
are essential as coenzymes.
 Hemophilia

 About 85% of hemophiliacs suffer from classic

hemophilia (1 male in 10 000)
 They cannot produce factor VIII
 The rest show Christmas disease where they
cannot make factor IX
 The genes for both forms of hemophilia are sex
linked
 Hemophiliacs do clot their blood slowly because
there is an alternative pathway via
thromboplastin.
 European Royals &
Hemophilia

Royal family pedigree