![Sex-linked inheritance](https://upload.wikimedia.org/wikipedia/commons/7/78/Sex-linked_inheritance.svg)
Sex linked describes the sex-specific patterns of
inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ ...
and
presentation
A presentation conveys information from a speaker to an audience. Presentations are typically demonstrations, introduction, lecture, or speech meant to inform, persuade, inspire, motivate, build goodwill, or present a new idea/product. Presenta ...
when a
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
(
allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution.
::"The chro ...
) is present on a
sex chromosome
A sex chromosome (also referred to as an allosome, heterotypical chromosome, gonosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior. The human sex chromosomes, a typical ...
(allosome) rather than a non-sex chromosome (
autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
). In humans, these are termed
X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y ...
,
X-linked dominant
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. ...
and
Y-linked
Y linkage, also known as holandric inheritance (from Ancient Greek ὅλος ''hólos'', "whole" + ἀνδρός ''andrós'', "male"), describes traits that are produced by genes located on the Y chromosome. It is a form of sex linkage.
Y  ...
. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal
dominance and recessiveness
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
.
There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the
X chromosome
The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO sex-d ...
than the
Y chromosome
The Y chromosome is one of two sex chromosomes (allosomes) in therian mammals, including humans, and many other animals. The other is the X chromosome. Y is normally the sex-determining chromosome in many species, since it is the presence or abse ...
. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females.
In X-linked recessive inheritance, a son born to a carrier mother and an unaffected father has a 50% chance of being affected, while a daughter has a 50% chance of being a carrier, however a fraction of carriers may display a milder (or even full) form of the condition due to a phenomenon known as
skewed X-inactivation
Skewed X-chromosome inactivation (skewed X-inactivation) occurs when the X-inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. It is usually defined as one allele being ...
, in which the normal process of
inactivating half of the female body's X chromosomes preferably targets a certain parent's X chromosome (the father's in this case). If the father is affected, the son will not be affected, as he does not inherit the father's X chromosome, but the daughter will always be a carrier (and may occasionally present with symptoms due to aforementioned skewed X-inactivation).
In X-linked dominant inheritance, a son or daughter born to an affected mother and an unaffected father both have a 50% chance of being affected (though a few X-linked dominant conditions are embryonic lethal for the son, making them appear to only occur in females). If the father is affected, the son will always be unaffected, but the daughter will always be affected. A Y-linked condition will only be inherited from father to son and will always affect every generation.
The inheritance patterns are different in animals that use
sex-determination systems
A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. Most organisms that create their offspring using sexual reproduction have two sexes.
In some species there are hermaphr ...
other than
XY. In the
ZW sex-determination system
The ZW sex-determination system is a chromosomal system that determines the sex of offspring in birds, some fish and crustaceans such as the giant river prawn, some insects (including butterflies and moths), the schistosome family of flatworms, ...
used by birds, the mammalian pattern is reversed, since the male is the homogametic sex (ZZ) and the female is
heterogametic
Heterogametic sex (digametic sex) refers to the individuals of a species in which the sex chromosomes are not the same.
For example, in humans, males with an X and a Y sex chromosome would be referred to as the heterogametic sex, and females ...
(ZW).
In
classical genetics
Classical genetics is the branch of genetics based solely on visible results of reproductive acts. It is the oldest discipline in the field of genetics, going back to the experiments on Mendelian inheritance by Gregor Mendel who made it possible t ...
, a mating experiment called a
reciprocal cross In genetics, a reciprocal cross is a breeding experiment designed to test the role of parental sex on a given inheritance pattern. All parent organisms must be true breeding to properly carry out such an experiment. In one cross, a male expressing ...
is performed to test if an animal's trait is sex-linked.
X-linked dominant inheritance
![Sex linked inheritance](https://upload.wikimedia.org/wikipedia/commons/a/ac/Sex_linked_inheritance.png)
Each child of a mother affected with an X-linked dominant trait has a 50% chance of inheriting the mutation and thus being affected with the disorder. If only the father is affected, 100% of the daughters will be affected, since they inherit their father's X chromosome, and 0% of the sons will be affected, since they inherit their father's Y chromosome.
There are fewer X-linked dominant conditions than X-linked recessive, because dominance in X-linkage requires the condition to present in females with only a fraction of the reduction in gene expression of autosomal dominance, since roughly half (or
as many as 90% in some cases) of a particular parent's X chromosomes are
inactivated in females.
Examples
*
Alport syndrome
Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect v ...
*
Coffin–Lowry syndrome
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
...
(CLS)
*
Fragile X syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may ...
*
Idiopathic hypoparathyroidism
*
Incontinentia pigmenti
Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.
The disease is characterized by skin abnormalitie ...
*
Rett syndrome
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often h ...
(RS)
*
Vitamin D
Vitamin D is a group of fat-soluble secosteroids responsible for increasing intestinal absorption of calcium, magnesium, and phosphate, and many other biological effects. In humans, the most important compounds in this group are vitamin D3 (c ...
resistant
rickets
Rickets is a condition that results in weak or soft bones in children, and is caused by either dietary deficiency or genetic causes. Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. Complications may ...
(
X-linked hypophosphatemia
X-linked hypophosphatemia (XLH) is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of dietary deficiency rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short st ...
)
X-linked recessive inheritance
Females possessing one X-linked recessive mutation are considered carriers and will generally not manifest clinical symptoms of the disorder, although differences in
X chromosome inactivation
X-inactivation (also called Lyonization, after English geneticist Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced by being packaged into a ...
can lead to varying degrees of clinical expression in carrier females since some cells will express one X
allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution.
::"The chro ...
and some will express the other. All males possessing an X-linked recessive mutation will be affected, since males have only a single X chromosome and therefore have only one copy of X-linked genes. All offspring of a carrier female have a 50% chance of inheriting the mutation if the father does not carry the recessive allele. All female children of an affected father will be carriers (assuming the mother is not affected or a carrier), as daughters possess their father's X chromosome. If the mother is not a carrier, no male children of an affected father will be affected, as males only inherit their father's Y chromosome.
The incidence of X-linked recessive conditions in females is the square of that in males: for example, if 1 in 20 males in a human population are
red–green color blind
Color blindness or color vision deficiency (CVD) is the decreased ability to color vision, see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may ...
, then 1 in 400 females in the population are expected to be color-blind (
1/
20)*(
1/
20).
Examples
*
Aarskog–Scott syndrome
Aarskog–Scott syndrome (AAS) is a rare disease inherited disease, inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild ...
*
Adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the bo ...
(ALD)
*
Bruton's agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight infection. As the form of agammaglobulinemia that is X-linked, it is much more common in males. In people with XLA, the white ...
*
Color blindness
Color blindness or color vision deficiency (CVD) is the decreased ability to color vision, see color or differences in color. It can impair tasks such as selecting ripe fruit, choosing clothing, and reading traffic lights. Color blindness may ...
*
Complete androgen insensitivity syndrome
Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals ...
*Congenital
aqueductal stenosis
Aqueductal stenosis is a narrowing of the aqueduct of Sylvius which blocks the flow of cerebrospinal fluid (CSF) in the ventricular system. Blockage of the aqueduct can lead to hydrocephalus, specifically as a common cause of congenital and/or ob ...
(
hydrocephalus
Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased intracranial pressure, pressure inside the skull. Older people may have headaches, double vision, poor ...
)
*
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis fol ...
*
Fabry disease
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases. T ...
*
Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficiency (G6PDD), which is the most common enzyme deficiency worldwide, is an inborn error of metabolism that predisposes to red blood cell breakdown. Most of the time, those who are affected have no symptoms. ...
*
Haemophilia
Haemophilia, or hemophilia (), is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, ...
A and
B
*
Hunter syndrome
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. ...
*Inherited
nephrogenic diabetes insipidus
Nephrogenic diabetes insipidus, also known as renal diabetes insipidus, is a form of diabetes insipidus primarily due to pathology of the kidney. This is in contrast to central or neurogenic diabetes insipidus, which is caused by insufficient l ...
*
Menkes disease
Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth ...
(kinky hair syndrome)
*
Ornithine carbamoyltransferase deficiency
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle, r ...
*
Wiskott–Aldrich syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczem ...
Y-linked
*Various failures in the
SRY genes
Sex-linked traits in other animals
*
White
White is the lightest color and is achromatic (having no hue). It is the color of objects such as snow, chalk, and milk, and is the opposite of black. White objects fully reflect and scatter all the visible wavelengths of light. White on ...
eyes in ''
Drosophila melanogaster
''Drosophila melanogaster'' is a species of fly (the taxonomic order Diptera) in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the "vinegar fly" or "pomace fly". Starting with Ch ...
'' flies was one of the earliest sex-linked
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
s discovered.
*Fur color in domestic
cat
The cat (''Felis catus'') is a domestic species of small carnivorous mammal. It is the only domesticated species in the family Felidae and is commonly referred to as the domestic cat or house cat to distinguish it from the wild members of ...
s: the gene that causes orange pigment is on the X chromosome; thus a
Calico
Calico (; in British usage since 1505) is a heavy plain-woven textile made from unbleached, and often not fully processed, cotton. It may also contain unseparated husk parts. The fabric is far coarser than muslin, but less coarse and thick than ...
or
tortoiseshell cat
Tortoiseshell is a cat animal coloration, coat coloring named for its similarity to tortoiseshell material. Like calico cat, calicoes, tortoiseshell cats are almost exclusively female. Male tortoiseshells are rare and are usually sterile.Atkins (2 ...
, with both black (or gray) and orange pigment, is nearly always female.
* The first sex-linked gene ever discovered was the "lacticolor"
X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y ...
gene in the moth ''
Abraxas grossulariata
''Abraxas grossulariata'' is a moth of the family Geometridae, native to the Palearctic realm and North America. Its distinctive speckled coloration has given it a common name of magpie moth. The caterpillar is similarly coloured to the adult, ...
'' by
Leonard Doncaster
Leonard Doncaster (31 December 1877 – 28 May 1920) was an English geneticist and a lecturer on zoology at both Birmingham University and the University of Liverpool whose research work was largely based on insects.
Early life
Doncaster was ...
.
Related terms
It is important to distinguish between sex-linked characters, which are controlled by genes on sex chromosomes, and two other categories.
Sex-influenced traits
Sex-influenced or sex-conditioned traits are phenotypes affected by whether they appear in a male or female body.
[King R.C; Stansfield W.D. & Mulligan P.K. 2006. ''A dictionary of genetics''. 7th ed, Oxford University Press. ] Even in a homozygous dominant or recessive female the condition may not be expressed fully. Example:
baldness
Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarrin ...
in humans.
Sex-limited traits
These are characters only expressed in one sex. They may be caused by genes on either autosomal or sex chromosomes.
[ Examples: female sterility in ''Drosophila''; and many polymorphic characters in insects, especially in relation to ]mimicry
In evolutionary biology, mimicry is an evolved resemblance between an organism and another object, often an organism of another species. Mimicry may evolve between different species, or between individuals of the same species. Often, mimicry f ...
. Closely linked genes on autosomes called "supergene
A supergene is a chromosomal region encompassing multiple neighboring genes that are inherited together because of close genetic linkage, i.e. much less recombination than would normally be expected. This mode of inheritance can be due to genomic ...
s" are often responsible for the latter.
See also
*X-linked dominant inheritance
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. ...
*X-linked recessive inheritance
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y ...
References
{{Authority control
Genetics