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Sex-Linked

Chapter · October 2020

DOI: 10.1007/978-3-319-47829-6_562-1

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Sex-Linked Introduction

Rahul Kumar1, Akash Gautam2 and Sex-linked phenotypes were discovered in the
Shashi Bala Singh1 year 1910 by Thomas Hunt Morgan
1
National Institute of Pharmaceutical Education (an American geneticist) as white-eyed mutations
and Research, Hyderabad, India in the “male” fruit fly (Drosophila melanogaster).
2
School of Medical Science, Centre for Neural Morgan was awarded a Noble Prize in Physiology
and Cognitive Sciences, University of Hyderabad, or Medicine in 1933 for this discovery. He
Hyderabad, India performed a series of experiments on fruit flies
and reported that the gene that controls the color
of the eyes in these flies is located on the
X chromosome. He did a cross between a white-
Synonyms
eye (mutant) male with a red eye (wild-type)
female fly. In the first generation, all flies obtained
Gender-based; Gender-related; Sex-related
were of red eye color as the white eye trait was
recessive. The next cross between F1 generation
males and females produced an F2 generation that
Definition was comprised of 3470 red eyed (both male and
female) and 782 white eyed (only male) flies
Any phenotype is said to be sex-linked if the (Fig. 1). Sex-linked traits or genes are located on
triggering gene for that phenotype is located on a the sex chromosome, that is, X chromosome and
sex chromosome (Morgan et al. 1915). Sex- Y chromosome in humans. The genes located on
linkage is the pattern of the allele expression and the X chromosome are called X-linked genes and,
inheritance in association with the sex chromo- on the Y chromosome, Y-linked genes. In
somes of the individuals (Charlesworth 2017). humans, Y-linked genes are transmitted only by
For example, in humans, the term sex-linked phe- males and have genotype XY. Contrarily,
notype generally refers to the characters that are X-linked genes are transmitted by both males
influenced by the genes that are located on either and females (Morgan et al. 1915).
X or Y chromosomes (Snell and Turner 2018).

© Springer Nature Switzerland AG 2020

J. Vonk, T. K. Shackelford (eds.), Encyclopedia of Animal Cognition and Behavior,
https://doi.org/10.1007/978-3-319-47829-6_562-1
2 Sex-Linked

Sex-Linked, Fig. 1 Experiments/cross performed by TH Morgan

Characteristic Features of the Sex- • The inheritance of X-linked genes and

Linked Phenotypes Y-linked genes from parents is called sex-
linked inheritance.
• Mendel’s law does not apply to those genes
that are completely located on either X or
Y chromosomes.
Sex-Linked Inheritance
• Sex-linked inheritance is the inheritance of
traits that are determined by the expression of
Sex-linked inheritance is the passing of charac-
genes located on the sex chromosomes
ters/alleles that are located on either of the sex
(Raznahan et al. 2018).
chromosomes (X and Y chromosome) from par-
• Sex-linked inheritance mostly occurs due to
ents to the progenies. Therefore, the inheritance of
the X chromosome as compared to the
X-linked traits is generally from mother to daugh-
Y chromosome.
ter, but Y-linked inheritance is from father to
• The genes located on the X chromosome are
son only.
known as diandric and on the Y chromosome
as holandric genes.
Sex-Linked 3

Sex-Linked Disorder transmission from father to son, and affected

males are more severely affected than females.
Like autosomes, sex chromosomes are comprised The X-linked dominant disorder is rare as com-
of different genes that are required for the normal pared to X-linked recessive disorder. The
function. Functional alteration in these genes due examples of X-linked dominant disorder are
to mutations leads to sex-linked disorders (Schurz Fragile X syndrome, oral-facial syndrome
et al. 2019). Mutations in Y chromosomes type 1, and hypophosphatemic ricketsm
(Y-linked inheritance) are characterized by an (Bagni and Zukin 2019).
alteration in male sexual functions and secondary 3. Y-linked disorder: Mutations in the genes that
male characters. For example, Y-linked inheri- are located on the nonhomologous region of
tance disorder is comprised of hypertrichosis that the Y chromosome and directly pass from male
is characterized by growth of hair at the outside to male may cause Y-linked disorder.
rim of the ear and Webbed toes that is character-
ized by web-like connection between second and The list of some of the sex-linked disorders is
third toes. Y-linked inheritance is carried out by as following:
the Y chromosome from father to his son only
(Pavone et al. 2015). Similarly, the mutation in the Sex-linked
S. no. Disorder Symptoms status
X chromosome is defined as the X-linked inheri-
1. Color blindness The person is Due to
tance. Some common sex-linked disorders are not able to X-linked
hemophilia (Lewis et al. 1963), red green color distinguish recessive
blindness (Wale et al. 2018), congenital night between red or genes
blindness (Le Pichon et al. 2013), Duchenne mus- green or both (Yatsenko
color et al. 2016)
cular dystrophy (Ward and Weber 2019), and
2. Hemophilia Pain, swelling,Due to
Fragile X syndrome (Bagni and Zukin 2019). (Bleeder’s or tightness inX-linked
In humans, sex-linked disorders can be catego- disorder) joint and bloodrecessive
rized into X-linked and Y-linked disorders. in urine or stool
genes
(Lewis
X-linked disorders can be further divided into
et al. 1963)
X-linked recessive and X-linked dominant
3. Rett syndrome Leading to Due to
disorders. cognitive X-linked
impairment in dominant
1. X-linked recessive disorder: X-linked reces- female genes
(Feldman
sive disorder is a mode of inheritance in which
et al. 2016)
mutation in a gene located on the 4. Double-cortex Intellectual Due to
X chromosome that causes the phenotype is syndrome disability, X-linked
always expressed in males and females that seizures, and dominant
are homozygous for gene mutation. The most behavioral genes
problems (Sprugnoli
common X-linked recessive disorders found in et al. 2018)
humans are Hemophilia (Hemophilia A and B) 5. Incontinentia Characterized Due to
(Lewis et al. 1963) and color blindness pigment type 1 by X-linked
(Le Pichon et al. 2013). dermatological, dominant
2. X-linked dominant disorder: X-linked dom- ocular, dental, genes
and (Roberts
inance disorder is a mode of genetic inheri- neurological 1958)
tance, in which a dominant gene is carried on abnormalities
the X chromosome. X-linked dominant disor- 6. Hypophosphatemia Electrolyte Due to
der is uncommon as compared to other Men- disorder in X linked
which there is a dominant
delian disorders, and females are mostly
low level of genes
affected as compared to males. Females have (Cubillos
two X chromosomes and do not show the (continued)
4 Sex-Linked

patient with 15q13.3 homozygous micro deletion syn-

Sex-linked drome. European Journal of Human Genetics, 21(10),
S. no. Disorder Symptoms status 1093–1099.
phosphate in the Celis and Lewis, J. H., Didisheim, P., Ferguson, J. H., & Li, C. C.
blood Mena (1963). Genetic considerations in familial hemorrhagic
Nannig disorder. I. The sex-linked recessive disorders, hemo-
2018) philia and PTC deficiency. American Journal of
7 Y-chromosome Adult male Due to Human Genetics, 15(1), 53–61.
infertility produce Y-linked Morgan, T. H., Sturtevant, A. H., Muller, H. J., & Bridges,
immature sperm disorder C. B. (1915). The mechanism of Mendelian heredity.
cells, fewer (Dhanoa New York: Henry Holt and Company.
sperm cells, or et al. 2016) Pavone, P., Praticò, A. D., Falsaperla, R., et al. (2015).
sperm cells that Congenital generalized hypertrichosis: The skin as a
are abnormally clue to complex malformation syndromes. Italian Jour-
shaped or that nal of Pediatrics, 41, 55.
do not move Raznahan, A., Parikshak, N. N., Chandran, V., et al.
properly (2018). Sex-chromosome dosage effects on gene
expression in humans. Proceedings of the National
Academy of Sciences of the United States of America,
115(28), 7398–7403.
Roberts, A. P. (1958). Incontinentia pigmenti (Bloch-
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