Search Wikipedia

Y chromosome
Article Talk

The Y chromosome is one of two sex chromosomes in therian mammals and other organisms. Along with
the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining
because it is the presence or absence of Y chromosome that determines the male or female sex of offspring
produced in sexual reproduction. In mammals, the Y chromosome contains the SRY gene, which triggers
development of male gonads. The Y chromosome is passed only from male parents to male offspring.

Contents Human Y chromosome

Overview
Discovery

Variations
Human Y chromosome (after G-banding)
Origins and evolution
Before Y chromosome

Origin

Recombination inhibition

Degeneration
High mutation rate

Inefficient selection

Genetic drift Y chromosome in human male karyogram

Gene conversion Features

Future evolution
Length (bp) 62,460,029 bp
1:1 sex ratio (CHM13)

Non-therian Y chromosome No. of genes 63 (CCDS)[1]

ZW chromosomes
Type Allosome
Non-inverted Y chromosome

Multiple XY pairs Centromere Acrocentric[2]

position (10.4 Mbp[3])
Human Y chromosome
Sequence of the human Y chromosome Complete gene lists

Structure
CCDS Gene list
Cytogenetic band
HGNC Gene list
Non-combining region of Y (NRY)

Sequence classes UniProt Gene list

Genes NCBI Gene list

Number of genes
External map viewers
Gene list

Y-chromosome-linked diseases Ensembl Chromosome Y

Loss of Y chromosome
Entrez Chromosome Y
Y chromosome microdeletion
NCBI Chromosome Y
Defective Y chromosome
UCSC Chromosome Y
XXY

XYY Full DNA sequences

Rare RefSeq NC_000024

More than two Y chromosomes (FASTA)

XX male syndrome GenBank CM000686

Genetic genealogy (FASTA)

Brain function

Microchimerism

See also

References

External links

Overview

Discovery

The Y chromosome was identified as a sex-determining chromosome

by Nettie Stevens at Bryn Mawr College in 1905 during a study of the
mealworm Tenebrio molitor. Edmund Beecher Wilson independently
discovered the same mechanisms the same year, working with
Hemiptera. Stevens proposed that chromosomes always existed in
pairs and that the smaller chromosome (now labelled "Y") was the
pair of the X chromosome discovered in 1890 by Hermann Henking.
She realized that the previous idea of Clarence Erwin McClung, that
the X chromosome determines sex, was wrong and that sex
determination is, in fact, due to the presence or absence of the Y
chromosome. In the early 1920s Theophilus Painter determined that
X and Y chromosomes determined sex in humans (and other
mammals).[4]

Nettie Stevens The chromosome was given the name "Y" simply to follow on from
Henking's "X" alphabetically.[5][6] The idea that the Y chromosome
was named after its similarity in appearance to the letter "Y" is mistaken. All chromosomes normally appear
as an amorphous blob under the microscope and only take on a well-defined shape during mitosis. This
shape is vaguely X-shaped for all chromosomes. It is entirely coincidental that the Y chromosome, during
mitosis, has two very short branches which can look merged under the microscope and appear as the
descender of a Y-shape.[5]: 65–66

Variations
See also: Androgen insensitivity syndrome and Intersex

Most therian mammals have only one pair of sex chromosomes in each cell. Males have one Y chromosome
and one X chromosome, while females have two X chromosomes. In mammals, the Y chromosome contains
a gene, SRY, which triggers embryonic development as a male. The Y chromosomes of humans and other
mammals also contain other genes needed for normal sperm production.[citation needed]

There are exceptions, however. Among humans, some males are born two Xs and a Y ("XXY", see Klinefelter
syndrome), one X and two Ys (see XYY syndrome). Some females have three Xs (Trisomy X), and some
have a single X instead of two Xs ("X0", see Turner syndrome). There are other variations in which, during
embryonic development, the WNT4 gene[7] is activated and/or the SRY gene is damaged leading to birth of
an XY female (Swyer syndrome[7]). In other cases, the SRY gene is copied to the X, leading to birth of an XX
male.[8]

Origins and evolution

Before Y chromosome

Many ectothermic vertebrates have no sex chromosomes.[9] If these species have different sexes, sex is
determined environmentally rather than genetically. For some species, especially reptiles, sex depends on
the incubation temperature.[10] Some vertebrates are hermaphrodites, though hermaphroditic species are
most commonly sequential, meaning the organism switches sex, producing male or female gametes at
different points in its life, but never producing both at the same time. This is opposed to simultaneous
hermaphroditism, where the same organism produces male and female gametes at the same time. Most
simultaneous hermaphrodite species are invertebrates, and among vertebrates, simultaneous
hermaphroditism has only been discovered in a few orders of fish.[11]

Origin

The X and Y chromosomes are thought to have evolved from a pair of identical chromosomes,[12][13] termed
autosomes, when an ancestral animal developed an allelic variation (a so-called "sex locus") and simply
possessing this allele caused the organism to be male.[14] The chromosome with this allele became the Y
chromosome, while the other member of the pair became the X chromosome. Over time, genes that were
beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or
were acquired by the Y chromosome through the process of translocation.[15]

Until recently, the X and Y chromosomes were thought to have diverged around 300 million years ago.[16]
However, research published in 2008 analyzing the platypus genome[17] suggested that the XY sex-
determination system would not have been present more than 166 million years ago, when monotremes split
from other mammals.[18] This re-estimation of the age of the therian XY system is based on the finding that
sequences that are on the X chromosomes of marsupials and eutherian mammals are not present on the
autosomes of platypus and birds.[18] The older estimate was based on erroneous reports that the platypus
X chromosomes contained these sequences.[19][20]

Recombination inhibition

Most chromosomes recombine during meiosis. However, in males, the X and Y pair in a shared region
known as the pseudoautosomal region (PAR).[21] The PAR undergoes frequent recombination between the X
and Y chromosomes,[21] but recombination is suppressed in other regions of the Y chromosome.[14] These
regions contain sex-determining and other male-specific genes.[22] Without this suppression, these genes
could be lost from the Y chromosome from recombination and cause issues such as infertility.[23]

The lack of recombination across the majority of the Y chromosome makes it a useful tool in studying
human evolution, since recombination complicates the mathematical models used to trace ancestries.[24]

Degeneration

By one estimate, the human Y chromosome has lost 1,393 of its 1,438 original genes over the course of its
existence, and linear extrapolation of this 1,393-gene loss over 300 million years gives a rate of genetic loss
of 4.6 genes per million years.[25] Continued loss of genes at the rate of 4.6 genes per million years would
result in a Y chromosome with no functional genes – that is the Y chromosome would lose complete
function – within the next 10 million years, or half that time with the current age estimate of 160 million
years.[14][26] Comparative genomic analysis reveals that many mammalian species are experiencing a similar
loss of function in their heterozygous sex chromosome. Degeneration may simply be the fate of all non-
recombining sex chromosomes, due to three common evolutionary forces: high mutation rate, inefficient
selection, and genetic drift.[14]

With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving
parts of the human genome.[27] However, these changes have been limited to non-coding sequences and
comparisons of the human and chimpanzee Y chromosomes (first published in 2005) show that the human
Y chromosome has not lost any genes since the divergence of humans and chimpanzees between 6–7
million years ago.[28] Additionally, a scientific report in 2012 stated that only one gene had been lost since
humans diverged from the rhesus macaque 25 million years ago.[29] These facts provide direct evidence
that the linear extrapolation model is flawed and suggest that the current human Y chromosome is either no
longer shrinking or is shrinking at a much slower rate than the 4.6 genes per million years estimated by the
linear extrapolation model.[citation needed]

High mutation rate

The human Y chromosome is particularly exposed to high mutation rates due to the environment in which it
is housed. The Y chromosome is passed exclusively through sperm, which undergo multiple cell divisions
during gametogenesis. Each cellular division provides further opportunity to accumulate base pair
mutations. Additionally, sperm are stored in the highly oxidative environment of the testis, which
encourages further mutation. These two conditions combined put the Y chromosome at a greater
opportunity of mutation than the rest of the genome.[14] The increased mutation opportunity for the Y
chromosome is reported by Graves as a factor 4.8.[14] However, her original reference obtains this number
for the relative mutation rates in male and female germ lines for the lineage leading to humans.[30]

The observation that the Y chromosome experiences little meiotic recombination and has an accelerated
rate of mutation and degradative change compared to the rest of the genome suggests an evolutionary
explanation for the adaptive function of meiosis with respect to the main body of genetic information.
Brandeis[31] proposed that the basic function of meiosis (particularly meiotic recombination) is the
conservation of the integrity of the genome, a proposal consistent with the idea that meiosis is an
adaptation for repairing DNA damage.[32]

Inefficient selection

Without the ability to recombine during meiosis, the Y chromosome is unable to expose individual alleles to
natural selection. Deleterious alleles are allowed to "hitchhike" with beneficial neighbors, thus propagating
maladapted alleles into the next generation. Conversely, advantageous alleles may be selected against if
they are surrounded by harmful alleles (background selection). Due to this inability to sort through its gene
content, the Y chromosome is particularly prone to the accumulation of "junk" DNA. Massive accumulations
of retrotransposable elements are scattered throughout the Y.[14] The random insertion of DNA segments
often disrupts encoded gene sequences and renders them nonfunctional. However, the Y chromosome has
no way of weeding out these "jumping genes". Without the ability to isolate alleles, selection cannot
effectively act upon them.[citation needed]

A clear, quantitative indication of this inefficiency is the entropy rate of the Y chromosome. Whereas all
other chromosomes in the human genome have entropy rates of 1.5–1.9 bits per nucleotide (compared to
the theoretical maximum of exactly 2 for no redundancy), the Y chromosome's entropy rate is only 0.84.[33]
This means the Y chromosome has a much lower information content relative to its overall length; it is more
redundant.[citation needed]

Genetic drift

Even if a well adapted Y chromosome manages to maintain genetic activity by avoiding mutation
accumulation, there is no guarantee it will be passed down to the next generation. The population size of
the Y chromosome is inherently limited to 1/4 that of autosomes: diploid organisms contain two copies of
autosomal chromosomes while only half the population contains 1 Y chromosome. Thus, genetic drift is an
exceptionally strong force acting upon the Y chromosome. Through sheer random assortment, an adult
male may never pass on his Y chromosome if he only has female offspring. Thus, although a male may have
a well adapted Y chromosome free of excessive mutation, it may never make it into the next gene pool.[14]
The repeat random loss of well-adapted Y chromosomes, coupled with the tendency of the Y chromosome
to evolve to have more deleterious mutations rather than less for reasons described above, contributes to
the species-wide degeneration of Y chromosomes through Muller's ratchet.[34]

Gene conversion

As it has been already mentioned, the Y chromosome is unable to recombine during meiosis like the other
human chromosomes; however, in 2003, researchers from MIT discovered a process which may slow down
the process of degradation. They found that human Y chromosome is able to "recombine" with itself, using
palindrome base pair sequences.[35] Such a "recombination" is called gene conversion.

In the case of the Y chromosomes, the palindromes are not noncoding DNA; these strings of bases contain
functioning genes important for male fertility. Most of the sequence pairs are greater than 99.97% identical.
The extensive use of gene conversion may play a role in the ability of the Y chromosome to edit out genetic
mistakes and maintain the integrity of the relatively few genes it carries. In other words, since the Y
chromosome is single, it has duplicates of its genes on itself instead of having a second, homologous,
chromosome. When errors occur, it can use other parts of itself as a template to correct them.[35]

Findings were confirmed by comparing similar regions of the Y chromosome in humans to the Y
chromosomes of chimpanzees, bonobos and gorillas. The comparison demonstrated that the same
phenomenon of gene conversion appeared to be at work more than 5 million years ago, when humans and
the non-human primates diverged from each other.[35]

Future evolution

According to some theories, in the terminal stages of the degeneration of the Y chromosome, other
chromosomes may increasingly take over genes and functions formerly associated with it and finally, within
the framework of this theory, the Y chromosome disappears entirely, and a new sex-determining system
arises.[14][neutrality is disputed][improper synthesis?] Several species of rodent in the sister families Muridae and
Cricetidae have reached these stages,[36][37] in the following ways:

The Transcaucasian mole vole, Ellobius lutescens, the Zaisan mole vole, Ellobius tancrei, and the
Japanese spinous country rats Tokudaia osimensis and Tokudaia tokunoshimensis, have lost the Y
chromosome and SRY entirely.[14][38][39] Tokudaia spp. have relocated some other genes ancestrally
present on the Y chromosome to the X chromosome.[39] Both sexes of Tokudaia spp. and Ellobius
lutescens have an XO genotype (Turner syndrome),[39] whereas all Ellobius tancrei possess an XX
genotype.[14] The new sex-determining system(s) for these rodents remains unclear.

The wood lemming Myopus schisticolor, the Arctic lemming, Dicrostonyx torquatus, and multiple species
in the grass mouse genus Akodon have evolved fertile females who possess the genotype generally
coding for males, XY, in addition to the ancestral XX female, through a variety of modifications to the X
and Y chromosomes.[36][40][41]

In the creeping vole, Microtus oregoni, the females, with just one X chromosome each, produce X
gametes only, and the males, XY, produce Y gametes, or gametes devoid of any sex chromosome,
through nondisjunction.[42]

Outside of the rodents, the black muntjac, Muntiacus crinifrons, evolved new X and Y chromosomes
through fusions of the ancestral sex chromosomes and autosomes.[43]

Modern data cast doubt on this hypothesis.[16] This conclusion was reached by scientists who studied the Y
chromosomes of rhesus monkeys. When genomically comparing the Y chromosome of rhesus monkeys and
humans, scientists found very few differences, given that humans and rhesus monkeys diverged 30 million
years ago.[44]

Some organisms have lost the Y chromosome. For example, most species of Nematodes. However, in order
for the complete elimination of Y to occur, it was necessary to develop an alternative way of determining sex
(for example, by determining sex by the ratio of the X chromosome to autosomes), and any genes
necessary for male function had to be moved to other chromosomes.[16] In the meantime, modern data
demonstrate the complex mechanisms of Y chromosome evolution and the fact that the disappearance of
the Y chromosome is not guaranteed.

1:1 sex ratio

Fisher's principle outlines why almost all species using sexual reproduction have a sex ratio of 1:1. W. D.
Hamilton gave the following basic explanation in his 1967 paper on "Extraordinary sex ratios",[45] given the
condition that males and females cost equal amounts to produce:

1. Suppose male births are less common than female.

2. A newborn male then has better mating prospects than a newborn female, and therefore can expect
to have more offspring.

3. Therefore, parents genetically disposed to produce males tend to have more than average numbers
of grandchildren born to them.

4. Therefore, the genes for male-producing tendencies spread, and male births become more common.

5. As the 1:1 sex ratio is approached, the advantage associated with producing males dies away.

6. The same reasoning holds if females are substituted for males throughout. Therefore, 1:1 is the
equilibrium ratio.

Non-therian Y chromosome

Many groups of organisms in addition to therian mammals have Y chromosomes, but these Y chromosomes
do not share common ancestry with therian Y chromosomes. Such groups include monotremes, Drosophila,
some other insects, some fish, some reptiles, and some plants. In Drosophila melanogaster, the Y
chromosome does not trigger male development. Instead, sex is determined by the number of X
chromosomes. The D. melanogaster Y chromosome does contain genes necessary for male fertility. So XXY
D. melanogaster are female, and D. melanogaster with a single X (X0), are male but sterile. There are some
species of Drosophila in which X0 males are both viable and fertile.[citation needed]

ZW chromosomes
Main article: ZW sex-determination system

Other organisms have mirror image sex chromosomes: where the homogeneous sex is the male, said to
have two Z chromosomes, and the female is the heterogeneous sex with a Z chromosome and a W
chromosome.[46] For example, the ZW sex-determination system is found in birds, snakes, and butterflies;
the females have ZW sex chromosomes, and males have ZZ sex chromosomes.[46][47][48]

Non-inverted Y chromosome

There are some species, such as the Japanese rice fish, in which the XY system is still developing and cross
over between the X and Y is still possible. Because the male specific region is very small and contains no
essential genes, it is even possible to artificially induce XX males and YY females to no ill effect.[49]

Multiple XY pairs

Monotremes like platypuses possess four or five pairs of XY sex chromosomes, each pair consisting of sex
chromosomes with homologous regions. The chromosomes of neighboring pairs are partially homologous,
such that a chain is formed during mitosis.[19] The first X chromosome in the chain is also partially
homologous with the last Y chromosome, indicating that profound rearrangements, some adding new
pieces from autosomes, have occurred in history.[50][51]: fig. 5

Platypus sex chromosomes have strong sequence similarity with the avian Z chromosome, (indicating close
homology),[17] and the SRY gene so central to sex-determination in most other mammals is apparently not
involved in platypus sex-determination.[18]

Human Y chromosome

This section may require cleanup to meet Wikipedia's quality standards. The specific problem is: Too
many subsections. Article might benefit from moving h3 subsections into h2 sections, if we can
somehow reconcile the gap between all therians and humans. "Origins and evolution" section has
a human focus, but the discussion does include all therians. Relevant discussion may be found on
the talk page. Please help improve this section if you can. (October 2021) (Learn how and when to
remove this template message)

The human Y chromosome is composed of about 62 million base pairs of DNA, making it similar in size to
chromosome 19 and represents almost 2% of the total DNA in a male cell.[52][53] The human Y chromosome
carries 693 genes, 107 of which are protein-coding.[54] However, some genes are repeated, making the
number of exclusive protein-coding genes just 42.[54] The Consensus Coding Sequence (CCDS) Project
only classifies 63 out of 107 genes, though CCDS estimates are often considered lower bounds due to their
conservative classification strategy.[55] All single-copy Y-linked genes are hemizygous (present on only one
chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome. Traits that are
inherited via the Y chromosome are called Y-linked traits, or holandric traits (from Ancient Greek ὅλος
hólos, "whole" + ἀνδρός andrós, "male").[56]

Sequence of the human Y chromosome

At the end of the Human Genome Project (and after many updates) almost half of the Y chromosome
remained un-sequenced even in 2021; a different Y chromosome from the HG002 (GM24385) genome was
completely sequenced in January 2022 and is included in the new "complete genome" human reference
genome sequence, CHM13.[54] The complete sequencing of a human Y chromosome was shown to contain
62,460,029 base pairs and 41 additional genes.[54] This added 30 million base pairs,[54] but it was
discovered that the Y chromosome can vary a lot in size between individuals, from 45.2 million to 84.9
million base pairs.[57]

Since almost half of the human Y sequence was unknown before 2022, it could not be screened out as
contamination in microbial sequencing projects. As a result, the NCBI RefSeq bacterial genome database
mistakenly includes some Y chromosome data.[54]

Structure

This article is missing information about NRY/MSY structure - How there's a huge chunk of
heterochromatin in q, nomenclature of the palindromes and amplicons, TTTY transcripts, etc. Best if we
add a figure that mashes together the tops of Colaco 2018 Fig 1 and PMID 12815422 fig 3.. Please
expand the article to include this information. Further details may exist on the talk page. (October 2021)

Cytogenetic band

G-banding ideograms of human Y chromosome

G-banding ideogram G-banding patterns of human Y

of human Y chromosome in three different
chromosome in resolutions (400,[58] 550[59] and
resolution 850 bphs. 850[3]). Band length in this diagram is
Band length in this based on the ideograms from ISCN
diagram is (2013).[60] This type of ideogram
proportional to represents actual relative band length
base-pair length. observed under a microscope at the
This type of different moments during the mitotic
ideogram is process.[61]
generally used in
genome browsers
(e.g. Ensembl,
UCSC Genome
Browser).

G-bands of human Y chromosome in resolution 850 bphs[3]

ISCN ISCN Basepair Basepair
Chr. Arm[62] Band[63] [64] [64]
Stain[65] Density
start stop start stop

Y p 11.32 0 149 1 300,000 gneg

Y p 11.31 149 298 300,001 600,000 gpos 50

Y p 11.2 298 1043 600,001 10,300,000 gneg

Y p 11.1 1043 1117 10,300,001 10,400,000 acen

Y q 11.1 1117 1266 10,400,001 10,600,000 acen

Y q 11.21 1266 1397 10,600,001 12,400,000 gneg

Y q 11.221 1397 1713 12,400,001 17,100,000 gpos 50

Y q 11.222 1713 1881 17,100,001 19,600,000 gneg

Y q 11.223 1881 2160 19,600,001 23,800,000 gpos 50

Y q 11.23 2160 2346 23,800,001 26,600,000 gneg

Y q 12 2346 3650 26,600,001 57,227,415 gvar

Non-combining region of Y (NRY)

Further information: Human Y-chromosome DNA haplogroup

The human Y chromosome is normally unable to recombine with the X chromosome, except for small pieces
of pseudoautosomal regions (PARs) at the telomeres (which comprise about 5% of the chromosome's
length). These regions are relics of ancient homology between the X and Y chromosomes. The bulk of the Y
chromosome, which does not recombine, is called the "NRY", or non-recombining region of the Y
chromosome.[66] Single-nucleotide polymorphisms (SNPs) in this region are used to trace direct paternal
ancestral lines.

More specifically, PAR1 is at 0.1–2.7 Mb. PAR2 is at 56.9–57.2 Mb. The non-recombining region (NRY) or
male-specific region (MSY) sits between. Their sizes is now known perfectly from CHM13: 2.77 Mb and
329.5 kb. Until CHM13 the data in PAR1 and PAR2 was just copied over from X chromosome.[57]

Sequence classes

Genes

Number of genes

The following are some of the gene count estimates of human Y chromosome. Because researchers use
different approaches to genome annotation their predictions of the number of genes on each chromosome
varies (for technical details, see gene prediction). Among various projects, CCDS takes an extremely
conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of
human protein-coding genes.[67]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
[1]
CCDS 63 — — 2016-09-08
[68]
HGNC 45 55 381 2017-05-12
[69]
Ensembl 63 109 392 2017-03-29
[70]
UniProt 47 — — 2018-02-28
[71][72][73]
NCBI 73 122 400 2017-05-19

Gene list

See also: Category:Genes on human chromosome Y

In general, the human Y chromosome is extremely gene poor—it is one of the largest gene deserts in the
human genome. Disregarding pseudoautosomal genes, genes encoded on the human Y chromosome
include:

Genes on the non-recombining portion of the Y chromosome[74]

X
Name Note
paralog

SRY SOX3 Sex-determining region. This is the p arm [Yp].

ZFY ZFX Zinc finger.

RPS4Y1 RPS4X Ribosomal protein S4.

AMELY AMELX Amelogenin.

TBL1Y TBL1X

X-transposed region (XTR) from Xq21, one of two genes. Once dubbed "PAR3"[75]
PCDH11Y PDCH11X
but later refuted.[76]

TGIF2LY TGIF2LX The other X-transposed gene.

TSPY1,
TSPX Testis-specific protein.
TSPY2

Not a gene. First part of the AZF (Azoospermia factor) region on arm q. Contains
AZFa (none)
the four following genes. X counterparts escape inactivation.

USP9Y USP9X Ubiquitin protease.

DDX3Y DDX3X Helicase.

UTY UTX Histone demethylase.

TB4Y TB4X

Second AZF region on arm q. Prone to NAHR [non-allelic homologous

AZFb (none) recombination] with AZFc. Overlaps with AZFc. Contains three single-copy gene
regions and repeats.

CYorf15 CXorf15

RPS4Y2 RPS4X Another copy of ribosomal protein S4.

EIF1AY EIF4AX

KDM5D KDM5C

XK
XKRY Found in the "yellow" amplicon.
(protein)

HSFY1, HSFX1,
Found in the "blue" amplicon.
HSFY2 HSFX2

PRY, PRY2 Found in the "blue" amplicon. Identified by similarity to PTPN13 (Chr. 4).

Large number of copies. Part of an RBM gene family of RNA recognition motif
RBMY1A1 RBMY
(RRM) proteins.

AZFc (none) Final (distal) part of the AZF. Multiple palindromes.

DAZ1,
DAZ2,
RRM genes in two palindromic clusters. BOLL and DAZLA are autosomal homologs.
DAZ3,
DAZ4

CDY1 is actually two identical copies. CDY2 is two closely related copies in
CDY1, CDY2
palindrome P5. Probably derived from autosomal CDYL.

VCX1
Three copies of VCX2 (BPY2). Part of the VCX/VCY family. The two copies of BPY1
VCY1, VCY2 through
are instead in Yq11.221/AZFa.
3

Y-chromosome-linked diseases

Diseases linked to the Y chromosome typically involve an aneuploidy, an atypical number of chromosomes.

Loss of Y chromosome

Males can lose the Y chromosome in a subset of cells, known as mosaic loss. Mosaic loss is strongly
associated with age,[77] and smoking is another important risk factor for mosaic loss.[78]

Mosaic loss may be related to health outcomes, indicating that the Y chromosome plays important roles
outside of sex determination.[78][79] Males with a higher percentage of hematopoietic stem cells lacking the
Y chromosome have a higher risk of certain cancers and have a shorter life expectancy.[79] In many cases, a
cause and effect relationship between the Y chromosome and health outcomes has not been determined,
and some propose loss of the Y chromosome could be a "neutral karyotype related to normal aging".[80]
However, a 2022 study showed that mosaic loss of the Y chromosome causally contributes to fibrosis, heart
risks, and mortality.[81]

Further studies are needed to understand how mosaic Y chromosome loss may contribute to other sex
differences in health outcomes, such as how male smokers have between 1.5 and 2 times the risk of non-
respiratory cancers as female smokers.[82][83] Potential countermeasures identified so far include not
smoking or stopping smoking and at least one potential drug that "may help counteract the harmful effects
of the chromosome loss" is under investigation.[84][85][better source needed]

Y chromosome microdeletion

Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing genes in the Y
chromosome. Many affected men exhibit no symptoms and lead normal lives. However, YCM is also known
to be present in a significant number of men with reduced fertility or reduced sperm count.[citation needed]

Defective Y chromosome

This results in the person presenting a female phenotype (i.e., is born with female-like genitalia) even
though that person possesses an XY karyotype. The lack of the second X results in infertility. In other
words, viewed from the opposite direction, the person goes through defeminization but fails to complete
masculinization.[citation needed]

The cause can be seen as an incomplete Y chromosome: the usual karyotype in these cases is 45X, plus a
fragment of Y. This usually results in defective testicular development, such that the infant may or may not
have fully formed male genitalia internally or externally. The full range of ambiguity of structure may occur,
especially if mosaicism is present. When the Y fragment is minimal and nonfunctional, the child is usually a
girl with the features of Turner syndrome or mixed gonadal dysgenesis.[citation needed]

XXY

Main article: Klinefelter syndrome

Klinefelter syndrome (47, XXY) is not an aneuploidy of the Y chromosome, but a condition of having an extra
X chromosome, which usually results in defective postnatal testicular function. The mechanism is not fully
understood; it does not seem to be due to direct interference by the extra X with expression of Y
genes.[citation needed]

XYY

Main article: XYY syndrome

47, XYY syndrome (simply known as XYY syndrome) is caused by the presence of a single extra copy of the
Y chromosome in each of a male's cells. 47, XYY males have one X chromosome and two Y chromosomes,
for a total of 47 chromosomes per cell. Researchers have found that an extra copy of the Y chromosome is
associated with increased stature and an increased incidence of learning problems in some boys and men,
but the effects are variable, often minimal, and the vast majority do not know their karyotype.[86]

In 1965 and 1966 Patricia Jacobs and colleagues published a chromosome survey of 315 male patients at
Scotland's only special security hospital for the developmentally disabled, finding a higher than expected
number of patients to have an extra Y chromosome.[87] The authors of this study wondered "whether an
extra Y chromosome predisposes its carriers to unusually aggressive behaviour", and this conjecture
"framed the next fifteen years of research on the human Y chromosome".[88]

Through studies over the next decade, this conjecture was shown to be incorrect: the elevated crime rate of
XYY males is due to lower median intelligence and not increased aggression,[89] and increased height was
the only characteristic that could be reliably associated with XYY males.[90] The "criminal karyotype"
concept is therefore inaccurate.[86]

Rare

The following Y-chromosome-linked diseases are rare, but notable because of their elucidation of the
nature of the Y chromosome.

More than two Y chromosomes

Greater degrees of Y chromosome polysomy (having more than one extra copy of the Y chromosome in
every cell, e.g., XYYY) are considerably more rare. The extra genetic material in these cases can lead to
skeletal abnormalities, dental abnormalities, decreased IQ, delayed development, and respiratory issues,
but the severity features of these conditions are variable.[91]

XX male syndrome

XX male syndrome occurs due to a genetic recombination in the formation of the male gametes, causing the
SRY portion of the Y chromosome to move to the X chromosome.[8] When such an X chromosome is
present in a zygote, male gonads develop because of the SRY gene.[8]

Genetic genealogy
Main articles: Human Y-chromosome DNA haplogroup and Y-chromosomal Adam

In human genetic genealogy (the application of genetics to traditional genealogy), use of the information
contained in the Y chromosome is of particular interest because, unlike other chromosomes, the Y
chromosome is passed exclusively from father to son, on the patrilineal line. Mitochondrial DNA, maternally
inherited to both sons and daughters, is used in an analogous way to trace the matrilineal line.[citation needed]

Brain function

Research is currently investigating whether male-pattern neural development is a direct consequence of Y-

chromosome-related gene expression or an indirect result of Y-chromosome-related androgenic hormone
production.[92]

Microchimerism

In 1974, male chromosomes were discovered in fetal cells in the blood circulation of women.[93]

In 1996, it was found that male fetal progenitor cells could persist postpartum in the maternal blood stream
for as long as 27 years.[94]

A 2004 study at the Fred Hutchinson Cancer Research Center, Seattle, investigated the origin of male
chromosomes found in the peripheral blood of women who had not had male progeny. A total of 120
subjects (women who had never had sons) were investigated, and it was found that 21% of them had male
DNA. The subjects were categorised into four groups based on their case histories:[95]

Group A (8%) had had only female progeny.

Patients in Group B (22%) had a history of one or more miscarriages.

Patients Group C (57%) had their pregnancies medically terminated.

Group D (10%) had never been pregnant before.

The study noted that 10% of the women had never been pregnant before, raising the question of where the
Y chromosomes in their blood could have come from. The study suggests that possible reasons for
occurrence of male chromosome microchimerism could be one of the following:[95]

miscarriages,

pregnancies,

vanished male twin,

possibly from sexual intercourse.

A 2012 study at the same institute has detected cells with the Y chromosome in multiple areas of the brains
of deceased women.[96]

See also

Genealogical DNA test

Genetic genealogy

Haplodiploid sex-determination system

Human Y chromosome DNA haplogroups

List of Y-STR markers

Muller's ratchet

Single nucleotide polymorphism

Y chromosome Short Tandem Repeat (STR)

Y linkage

Y-chromosomal Aaron

Y-chromosomal Adam

Y-chromosome haplogroups in populations of the world

References

1. ^ a b
"Homo sapiens Y chromosome genes" .
47. ^ Viana PF, Ezaz T, de Bello Cioffi M, Liehr T, Al-
CCDS Release 20 for Homo sapiens. 2016-09-08.
Rikabi A, Goll LG, et al. (July 2020). "Landscape of
Retrieved 2017-05-28.
snake' sex chromosomes evolution spanning 85
2. ^ Strachan T, Read A (2 April 2010). Human MYR reveals ancestry of sequences despite distinct
Molecular Genetics . Garland Science. p. 45. evolutionary trajectories" . Scientific Reports. 10
ISBN 978-1-136-84407-2. (1): 12499. Bibcode:2020NatSR..1012499V .
doi:10.1038/s41598-020-69349-5 .
3. ^ a b c
"Ideogram data for Homo sapience (850
PMC 7385105 . PMID 32719365 .
bphs, Assembly GRCh38.p3)" . Genome
Decoration Page. U.S. National Center for 48. ^ Sahara K, Yoshido A, Traut W (January 2012).
Biotechnology Information (NCBI). 2014-06-03. "Sex chromosome evolution in moths and
Retrieved 2017-04-26. butterflies" . Chromosome Research. 20 (1): 83–
94. doi:10.1007/s10577-011-9262-z .
4. ^ Glass B (1990). "Theophilus Shickel Painter:
hdl:2115/49121 . PMID 22187366 .
August 22, 1889-October 5, 1969" (PDF).
S2CID 15130561 .
Biographical Memoirs of the National Academy of
: