X Chromosome

Download as pdf or txt
Download as pdf or txt
You are on page 1of 23

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 X0 sex-determination system. The X
chromosome was named for its unique properties by early researchers, which resulted in the
naming of its counterpart Y chromosome, for the next letter in the alphabet, following its
subsequent discovery.[5]
Human X chromosome

Human X chromosome (after G-banding)

X chromosome in human male karyogram

Features

Length (bp) 156,040,895 bp

(GRCh38)[1]

No. of genes 804 (CCDS)[2]

Type Allosome

Centromere position Submetacentric[3]

(61.0 Mbp[4])

Complete gene lists

CCDS Gene list (https://www.ncbi.nlm.nih.gov/gene?ter


m=X%5BChr%5D%20AND%20%22Homo%20sapie
ns%22%5BOrganism%5D%20AND%20%28%22ha
s%20ccds%22%5BProperties%5D%20AND%20aliv
e%5Bprop%5D%29&cmd=DetailsSearch)

HGNC Gene list (https://www.genenames.org/cgi-bin/sta


tistics?c=X)

UniProt Gene list (https://www.uniprot.org/docs/humchrx.


txt)

NCBI Gene list (https://www.ncbi.nlm.nih.gov/gene/?ter


m=X%5BCHR%5D+AND+human%5BORGN%5D)
External map viewers

Ensembl Chromosome X (http://www.ensembl.org/Homo_


sapiens/Location/Chromosome?r=X)

Entrez Chromosome X (https://www.ncbi.nlm.nih.gov/m


apview/maps.cgi?TAXID=9606&chr=X)

NCBI Chromosome X (https://www.ncbi.nlm.nih.gov/ge


nome/gdv/browser/?context=genome&acc=GCF_
000001405.36&chr=X)

UCSC Chromosome X (https://genome.ucsc.edu/cgi-bi


n/hgTracks?db=hg38&position=chrX)

Full DNA sequences

RefSeq NC_000023 (https://www.ncbi.nlm.nih.gov/nuccor


e/NC_000023?report=fasta) (FASTA)

GenBank CM000685 (https://www.ncbi.nlm.nih.gov/nuccor


e/CM000685?report=fasta) (FASTA)

Discovery

It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig.
Henking was studying the testicles of Pyrrhocoris and noticed that one chromosome did not
take part in meiosis. Chromosomes are so named because of their ability to take up staining
(chroma in Greek means color). Although the X chromosome could be stained just as well as the
others, Henking was unsure whether it was a different class of object and consequently named
it X element,[6] which later became X chromosome after it was established that it was indeed a
chromosome.[7]

The idea that the X chromosome was named after its similarity to the letter "X" is mistaken. All
chromosomes normally appear as an amorphous blob under the microscope and take on a well
defined shape only 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.[8]
It was first suggested that the X chromosome was involved in sex determination by Clarence
Erwin McClung in 1901. After comparing his work on locusts with Henking's and others,
McClung noted that only half the sperm received an X chromosome. He called this chromosome
an accessory chromosome, and insisted (correctly) that it was a proper chromosome, and
theorized (incorrectly) that it was the male-determining chromosome.[6]

Inheritance pattern

The number of possible ancestors on the X chromosome inheritance line at a given ancestral generation follows the
Fibonacci sequence. (After Hutchison, L. "Growing the Family Tree: The Power of DNA in Reconstructing Family
Relationships".[9])

Luke Hutchison noticed that a number of possible ancestors on the X chromosome inheritance
line at a given ancestral generation follows the Fibonacci sequence.[9] A male individual has an X
chromosome, which he received from his mother, and a Y chromosome, which he received from
his father. The male counts as the "origin" of his own X chromosome ( ), and at his
parents' generation, his X chromosome came from a single parent ( ). The male's mother
received one X chromosome from her mother (the son's maternal grandmother), and one from
her father (the son's maternal grandfather), so two grandparents contributed to the male
descendant's X chromosome ( ). The maternal grandfather received his X chromosome
from his mother, and the maternal grandmother received X chromosomes from both of her
parents, so three great-grandparents contributed to the male descendant's X chromosome (
). Five great-great-grandparents contributed to the male descendant's X chromosome (
), etc. (Note that this assumes that all ancestors of a given descendant are independent,
but if any genealogy is traced far enough back in time, ancestors begin to appear on multiple
lines of the genealogy, until eventually, a population founder appears on all lines of the
genealogy.)

Humans

Function

Nucleus of a female amniotic fluid cell. Top: Both X-chromosome territories are detected by FISH. Shown is a single
optical section made with a confocal microscope. Bottom: Same nucleus stained with DAPI and recorded with a CCD
camera. The Barr body is indicated by the arrow, it identifies the inactive X (Xi).

The X chromosome in humans spans more than 153 million base pairs (the building material of
DNA). It represents about 800 protein-coding genes compared to the Y chromosome containing
about 70 genes, out of 20,000–25,000 total genes in the human genome.
Each person usually
has one pair of sex chromosomes in each cell. Females typically have two X chromosomes,
whereas males typically have one X and one Y chromosome. Both males and females retain one
of their mother's X chromosomes, and females retain their second X chromosome from their
father. Since the father retains his X chromosome from his mother, a human female has one X
chromosome from her paternal grandmother (father's side), and one X chromosome from her
mother. This inheritance pattern follows the Fibonacci numbers at a given ancestral depth.
Genetic disorders that are due to mutations in genes on the X chromosome are described as X
linked. If X chromosome has a genetic disease gene, it always causes illness in male patients,
since men have only one X chromosome and therefore only one copy of each gene. Females,
instead, may stay healthy and only be carrier of genetic illness, since they have another X
chromosome and possibility to have healthy gene copy. For example, hemophilia and red-green
colorblindness run in family this way.

The X chromosome carries hundreds of genes but few, if any, of these have anything to do
directly with sex determination. Early in embryonic development in females, one of the two X
chromosomes is permanently inactivated in nearly all somatic cells (cells other than egg and
sperm cells). This phenomenon is called X-inactivation or Lyonization, and creates a Barr body. If
X-inactivation in the somatic cell meant a complete de-functionalizing of one of the X-
chromosomes, it would ensure that females, like males, had only one functional copy of the X
chromosome in each somatic cell. This was previously assumed to be the case. However, recent
research suggests that the Barr body may be more biologically active than was previously
supposed.[10]

The partial inactivation of the X-chromosome is due to repressive heterochromatin that


compacts the DNA and prevents the expression of most genes. Heterochromatin compaction is
regulated by Polycomb Repressive Complex 2 (PRC2).[11]

Genes

Number of genes

The following are some of the gene count estimates of human X 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, the collaborative consensus coding sequence project (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.[12]
Estimated Protein-coding Non-coding RNA Release
Pseudogenes Source
by genes genes date

CCDS 804 — — [2] 2016-09-08


[13]
HGNC 825 260 606 2017-05-12

Ensembl 841 639 871 [14] 2017-03-29


[15]
UniProt 839 — — 2018-02-28
[16][17][18]
NCBI 874 494 879 2017-05-19

Gene list

The following is a partial list of genes on human chromosome X. For complete list, see the link
in the infobox on the right.

AD16: encoding Alzheimer disease 16 protein

AIC: encoding protein AIC

APOO: encoding protein Apolipoprotein O

ARMCX6: encoding protein Armadillo repeat containing X-linked 6

BEX1: encoding protein Brain-expressed X-linked protein 1

BEX2: encoding protein Brain-expressed X-linked protein 2

BEX4: encoding protein Brain expressed, X-linked 4

CCDC120: encoding protein Coiled coil domain containing protein 120

CCDC22: encoding protein Coiled-coil domain containing 22

CD99L2: CD99 antigen-like protein 2

CDR1-AS: encoding protein CDR1 antisense RNA

CHRDL1: encoding protein Chordin-like 1

CMTX2 encoding protein Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

CMTX3 encoding protein Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

CT45A5: encoding protein Cancer/testis antigen family 45, member A5

CT55: encoding protein Cancer/testis antigen 55


CXorf36: encoding protein hypothetical protein LOC79742

CXorf57: encoding protein Chromosome X open reading frame 57

CXorf40A: Chromosome X open reading frame 40

CXorf49: chromosome X open reading frame 49. encoding protein

CXorf66: encoding protein Chromosome X Open Reading Frame 66

CXorf67: encoding protein Uncharacterized protein CXorf67

DACH2: encoding protein Dachshund homolog 2

EFHC2: encoding protein EF-hand domain (C-terminal) containing 2

ERCC6L encoding protein ERCC excision repair 6 like, spindle assembly checkpoint helicase

F8A1: Factor VIII intron 22 protein

FAM104B: encoding protein Family with sequence similarity 104 member B

FAM120C: encoding protein Family with sequence similarity 120C

FAM122B: Family with sequence similarity 122 member B

FAM122C: encoding protein Family with sequence similarity 122C

FAM127A: CAAX box protein 1

FAM50A: Family with sequence similarity 50 member A

FATE1: Fetal and adult testis-expressed transcript protein

FMR1-AS1: encoding a long non-coding RNA FMR1 antisense RNA 1

FRMPD3: encoding protein FERM and PDZ domain containing 3

FRMPD4: encoding protein FERM and PDZ domain containing 4

FUNDC1: encoding protein FUN14 domain containing 1

FUNDC2: FUN14 domain-containing protein 2

GAGE12F: encoding G antigen 12F protein

GAGE2A: encoding G antigen 2A protein

GATA1: encoding GATA1 transcription factor

GNL3L encoding protein G protein nucleolar 3 like


GPRASP2: G-protein coupled receptor-associated sorting protein 2

GRIPAP1: encoding protein GRIP1-associated protein 1

GRDX: encoding protein Graves disease, susceptibility to, X-linked

HDHD1A: encoding enzyme Haloacid dehalogenase-like hydrolase domain-containing protein


1A

HS6ST2: encoding protein Heparan sulfate 6-O-sulfotransferase 2

ITM2A: encoding protein Integral membrane protein 2A

LAS1L: encoding protein LAS1-like protein

LINC01420: encoding protein Nucleosome assembly protein 1 like 3

LOC101059915: encoding *LOC101059915 protein

MAGEA2: encoding protein Melanoma-associated antigen 2

MAGEA5: encoding protein Melanoma antigen family A, 5

MAGEA8: encoding protein Melanoma antigen family A, 8

MAGED4B: encoding protein Melanoma-associated antigen D4

MAGT1: encoding protein Magnesium transporter protein 1

MAGED4: encoding protein MAGE family member D4

MAP3K15: encoding protein Mitogen-activated protein kinase kinase kinase 15

MBNL3: encoding protein Muscleblind-like protein 3

MBTPS2: encoding enzyme Membrane-bound transcription factor site-2 protease

MCT-1: encoding protein MCTS1, re-initiation and release factor

MIR106A: encoding microRNA MicroRNA 106

MIR222: encoding microRNA MicroRNA 222

MIR361: encoding microRNA MicroRNA 361

MIR503: encoding microRNA MicroRNA 503

MIR6087: encoding microRNA MicroRNA 6087

MIR660: encoding microRNA MicroRNA 660

MIRLET7F2: encoding protein MicroRNA let-7f-2


MORF4L2: encoding protein Mortality factor 4-like protein 2

MOSPD1: encoding protein Motile sperm domain containing 1

MOSPD2: encoding protein Motile sperm domain containing 2

NAP1L3: encoding protein Nucleosome assembly protein 1 like 3

NKRF: encoding protein NF-kappa-B-repressing factor

NRK: encoding enzyme Nik-related protein kinase

OTUD5: encoding protein OTU deubiquitinase 5

PASD1: encoding protein PAS domain-containing protein 1

PAGE1: encoding protein PAGE family member 1

PAGE2B: encoding PAGE family member 2B protein

PBDC1: encoding a protein of unestablished function

PCYT1B: encoding enzyme Choline-phosphate cytidylyltransferase B

PIN4: encoding enzyme Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4

PLAC1: encoding protein Placenta-specific protein 1

PLP2: encoding protein Proteolipid protein 2

RPA4: encoding protein Replication protein A 30 kDa subunit

RPS6KA6: encoding protein Ribosomal protein S6 kinase, 90kDa, polypeptide 6

RRAGB: encoding protein Ras-related GTP-binding protein B

RTL3: encoding protein Retrotransposon Gag like 3

SFRS17A: encoding protein Splicing factor, arginine/serine-rich 17A

SLC38A5: encoding protein Solute carrier family 38 member 5

SLITRK2: encoding protein SLIT and NTRK-like protein 2

SMARCA1: encoding protein Probable global transcription activator SNF2L1

SMS: encoding enzyme Spermine synthase

SPANXN1: encoding protein SPANX family member N1

SPANXN5: encoding protein SPANX family member N5


SPG16: encoding protein Spastic paraplegia 16 (complicated, X-linked recessive)

SSR4: encoding protein Translocon-associated protein subunit delta

TAF7L: encoding protein TATA-box binding protein associated factor 7-like

TCEAL1: encoding protein Transcription elongation factor A protein-like 1

TCEAL4: encoding protein Transcription elongation factor A protein-like 4

TENT5D: encoding protein Terminal nucleotidyltransferase 5D

TEX11: encoding protein Testis expressed 11

THOC2: encoding protein THO complex subunit 2

TMEM29: encoding protein Protein FAM156A

TMEM47: encoding protein Transmembrane protein 47

TMLHE: encoding enzyme Trimethyllysine dioxygenase, mitochondrial

TNMD encoding protein Tenomodulin (also referred to as tendin, myodulin, Tnmd and TeM)

TRAPPC2P1 encoding protein Trafficking protein particle complex subunit 2

TREX2: encoding enzyme Three prime repair exonuclease 2

TRO: encoding protein Trophinin

TSPYL2: encoding protein Testis-specific Y-encoded-like protein 2

TTC3P1: encoding protein Tetratricopeptide repeat domain 3 pseudogene 1

USP51: encoding enzyme Ubiquitin carboxyl-terminal hydrolase 51

VSIG1: encoding protein V-set and immunoglobulin domain containing 1

YIPF6: encoding protein Protein YIPF6

ZC3H12B: encoding protein ZC3H12B

ZCCHC18: encoding protein Zinc finger CCHC-type containing 18

ZFP92: encoding protein ZFP92 zinc finger protein

ZMYM3: encoding protein Zinc finger MYM-type protein 3

ZNF157: encoding protein Zinc finger protein 157

ZNF182 encoding protein Zinc finger protein 182


ZNF275: encoding protein Zinc finger protein 275

ZNF674: encoding protein Zinc finger protein 674

Structure

It is theorized by Ross et al. 2005 and Ohno 1967 that the X chromosome is at least partially
derived from the autosomal (non-sex-related) genome of other mammals, evidenced from
interspecies genomic sequence alignments.

The X chromosome is notably larger and has a more active euchromatin region than its Y
chromosome counterpart. Further comparison of the X and Y reveal regions of homology
between the two. However, the corresponding region in the Y appears far shorter and lacks
regions that are conserved in the X throughout primate species, implying a genetic degeneration
for Y in that region. Because males have only one X chromosome, they are more likely to have an
X chromosome-related disease.

It is estimated that about 10% of the genes encoded by the X chromosome are associated with a
family of "CT" genes, so named because they encode for markers found in both tumor cells (in
cancer patients) as well as in the human testis (in healthy patients).[19]

Role in disease

Numerical abnormalities

Klinefelter syndrome:

Klinefelter syndrome is caused by the presence of one or more extra copies of the X
chromosome in a male's cells. Extra genetic material from the X chromosome interferes with
male sexual development, preventing the testicles from functioning normally and reducing the
levels of testosterone.

Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each
cell, for a total of two X chromosomes and one Y chromosome (47,XXY). It is less common for
affected males to have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra
copies of both the X and Y chromosomes (48,XXYY) in each cell. The extra genetic material
may lead to tall stature, learning and reading disabilities, and other medical problems. Each
extra X chromosome lowers the child's IQ by about 15 points,[20][21] which means that the
average IQ in Klinefelter syndrome is in general in the normal range, although below average.
When additional X and/or Y chromosomes are present in 48,XXXY, 48,XXYY, or 49,XXXXY,
developmental delays and cognitive difficulties can be more severe and mild intellectual
disability may be present.

Klinefelter syndrome can also result from an extra X chromosome in only some of the body's
cells. These cases are called mosaic 46,XY/47,XXY.

Triple X syndrome (also called 47,XXX or trisomy X):

This syndrome results from an extra copy of the X chromosome in each of a female's cells.
Females with trisomy X have three X chromosomes, for a total of 47 chromosomes per cell.
The average IQ of females with this syndrome is 90, while the average IQ of unaffected
siblings is 100.[22] Their stature on average is taller than normal females. They are fertile and
their children do not inherit the condition.[23]

Females with more than one extra copy of the X chromosome (48, XXXX syndrome or 49,
XXXXX syndrome) have been identified, but these conditions are rare.

Turner syndrome:

This results when each of a female's cells has one normal X chromosome and the other sex
chromosome is missing or altered. The missing genetic material affects development and
causes the features of the condition, including short stature and infertility.

About half of individuals with Turner syndrome have monosomy X (45,X), which means each
cell in a woman's body has only one copy of the X chromosome instead of the usual two
copies. Turner syndrome can also occur if one of the sex chromosomes is partially missing or
rearranged rather than completely missing. Some women with Turner syndrome have a
chromosomal change in only some of their cells. These cases are called Turner syndrome
mosaics (45,X/46,XX).
X-linked recessive disorders

Sex linkage was first discovered in insects, e.g., T. H. Morgan's 1910 discovery of the pattern of
inheritance of the white eyes mutation in Drosophila melanogaster.[24] Such discoveries helped to
explain x-linked disorders in humans, e.g., haemophilia A and B, adrenoleukodystrophy, and red-
green color blindness.

Other disorders

XX male syndrome is a rare disorder, where the SRY region of the Y chromosome has
recombined to be located on one of the X chromosomes. As a result, the XX combination after
fertilization has the same effect as a XY combination, resulting in a male. However, the other
genes of the X chromosome cause feminization as well.

X-linked endothelial corneal dystrophy is an extremely rare disease of cornea associated with
Xq25 region. Lisch epithelial corneal dystrophy is associated with Xp22.3.

Megalocornea 1 is associated with Xq21.3-q22

Adrenoleukodystrophy, a rare and fatal disorder that is carried by the mother on the x-cell. It
affects only boys between the ages of 5 and 10 and destroys the protective cell surrounding the
nerves, myelin, in the brain. The female carrier hardly shows any symptoms because females
have a copy of the x-cell. This disorder causes a once healthy boy to lose all abilities to walk,
talk, see, hear, and even swallow. Within 2 years after diagnosis, most boys with
Adrenoleukodystrophy die.

Role in mental abilities and intelligence

The X-chromosome has played a crucial role in the development of sexually selected
characteristics for over 300 million years. During that time it has accumulated a
disproportionate number of genes concerned with mental functions. For reasons that are not yet
understood, there is an excess proportion of genes on the X-chromosome that are associated
with the development of intelligence, with no obvious links to other significant biological
functions.[25][26] In other words, a significant proportion of genes associated with intelligence are
passed on to male offspring from the mother alone and to female offspring from both mother
and father. There has also been interest in the possibility that haploinsufficiency for one or more
X-linked genes has a specific impact on development of the Amygdala and its connections with
cortical centres involved in social–cognition processing or the ‘social brain'.[25][27]

Cytogenetic band

G-banding ideograms of human X chromosome


G-banding ideogram of G-banding patterns of human X
human X chromosome chromosome in three different resolutions
in resolution 850 bphs. (400,[28] 550[29] and 850[4]). Band length in
Band length in this this diagram is based on the ideograms from
diagram is proportional ISCN (2013).[30] This type of ideogram
to base-pair length. This represents actual relative band length
type of ideogram is observed under a microscope at the different
generally used in moments during the mitotic process.[31]
genome browsers (e.g.
Ensembl, UCSC
Genome Browser).
G-bands of human X chromosome in resolution 850 bphs[4]
ISCN
ISCN
Basepair
Basepair

Chr. Arm[32] Band[33] [34] [34]


Stain[35] Density
start stop start stop

X p 22.33 0 323 1 4,400,000 gneg

X p 22.32 323 504 4,400,001 6,100,000 gpos 50

X p 22.31 504 866 6,100,001 9,600,000 gneg

X p 22.2 866 1034 9,600,001 17,400,000 gpos 50

X p 22.13 1034 1345 17,400,001 19,200,000 gneg

X p 22.12 1345 1448 19,200,001 21,900,000 gpos 50

X p 22.11 1448 1577 21,900,001 24,900,000 gneg

X p 21.3 1577 1784 24,900,001 29,300,000 gpos 100

X p 21.2 1784 1862 29,300,001 31,500,000 gneg

X p 21.1 1862 2120 31,500,001 37,800,000 gpos 100

X p 11.4 2120 2430 37,800,001 42,500,000 gneg

X p 11.3 2430 2624 42,500,001 47,600,000 gpos 75

X p 11.23 2624 2948 47,600,001 50,100,000 gneg

X p 11.22 2948 3129 50,100,001 54,800,000 gpos 25

X p 11.21 3129 3206 54,800,001 58,100,000 gneg

X p 11.1 3206 3297 58,100,001 61,000,000 acen

X q 11.1 3297 3491 61,000,001 63,800,000 acen

X q 11.2 3491 3620 63,800,001 65,400,000 gneg

X q 12 3620 3827 65,400,001 68,500,000 gpos 50

X q 13.1 3827 4137 68,500,001 73,000,000 gneg

X q 13.2 4137 4292 73,000,001 74,700,000 gpos 50

X q 13.3 4292 4447 74,700,001 76,800,000 gneg

X q 21.1 4447 4732 76,800,001 85,400,000 gpos 100

X q 21.2 4732 4809 85,400,001 87,000,000 gneg

X q 21.31 4809 5107 87,000,001 92,700,000 gpos 100

X q 21.32 5107 5184 92,700,001 94,300,000 gneg


X q 21.33 5184 5430 94,300,001 99,100,000 gpos 75

X q 22.1 5430 5701 99,100,001 103,300,000 gneg

X q 22.2 5701 5843 103,300,001 104,500,000 gpos 50

X q 22.3 5843 6050 104,500,001 109,400,000 gneg

X q 23 6050 6322 109,400,001 117,400,000 gpos 75

X q 24 6322 6619 117,400,001 121,800,000 gneg

X q 25 6619 7059 121,800,001 129,500,000 gpos 100

X q 26.1 7059 7253 129,500,001 131,300,000 gneg

X q 26.2 7253 7395 131,300,001 134,500,000 gpos 25

X q 26.3 7395 7602 134,500,001 138,900,000 gneg

X q 27.1 7602 7808 138,900,001 141,200,000 gpos 75

X q 27.2 7808 7886 141,200,001 143,000,000 gneg

X q 27.3 7886 8145 143,000,001 148,000,000 gpos 100

X q 28 8145 8610 148,000,001 156,040,895 gneg

Research

In March 2020 researchers reported that their review supports the unguarded X hypothesis:
according to this hypothesis one reason for why the average lifespan of males isn't as long as
that of females – by 18% on average according to the study – is that they have a Y chromosome
which can't protect an individual from harmful genes expressed on the X chromosome, while a
duplicate X chromosome, as present in female organisms, can ensure harmful genes aren't
expressed.[36][37]

In July 2020 scientists reported the first complete and gap-less assembly of a human X
chromosome.[38][39]

See also

List of X-STR markers

Sex linkage

X-inactivation
Pseudoautosomal region

Y chromosome

References

Earlier versions of this article contain material from the National Library of Medicine
(https://web.archive.org/web/20081122151614/http://www.nlm.nih.gov/copyright.html ), a part
of the National Institutes of Health (USA,) which, as a US government publication, is in the public
domain.
1. "Human Genome Assembly GRCh38 - Genome Reference Consortium" (https://www.ncbi.nlm.nih.gov/gr
c/human/data?asm=GRCh38) . National Center for Biotechnology Information. 2013-12-24. Retrieved
2017-03-04.

2. "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) -
Gene" (https://www.ncbi.nlm.nih.gov/gene?term=X%5BChr%5D%20AND%20%22Homo%20sapiens%22%
5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5
D%29&cmd=DetailsSearch) . NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved
2017-05-28.

3. Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics (https://books.google.com/book
s?id=dSwWBAAAQBAJ&pg=PA45) . Garland Science. p. 45. ISBN 978-1-136-84407-2.

4. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) (ht
tp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1) . Last update 2014-06-
03. Retrieved 2017-04-26.

5. Angier, Natalie (2007-05-01). "For Motherly X Chromosome, Gender Is Only the Beginning" (https://www.n
ytimes.com/2007/05/01/science/01angi.html) . The New York Times. Retrieved 2007-05-01.

6. James Schwartz, In Pursuit of the Gene: From Darwin to DNA, pages 155-158, Harvard University Press,
2009 ISBN 0674034910

7. David Bainbridge, 'The X in Sex: How the X Chromosome Controls Our Lives, pages 3-5, Harvard
University Press, 2003 ISBN 0674016211.

8. Bainbridge, pages 65-66

9. Hutchison, Luke (September 2004). "Growing the Family Tree: The Power of DNA in Reconstructing
Family Relationships" (http://fhtw.byu.edu/static/conf/2005/hutchison-growing-fhtw2005.pdf) (PDF).
Proceedings of the First Symposium on Bioinformatics and Biotechnology (BIOT-04). Retrieved
2016-09-03.
10. Carrel L, Willard H (2005). "X-inactivation profile reveals extensive variability in X-linked gene expression
in females". Nature. 434 (7031): 400–4. Bibcode:2005Natur.434..400C (https://ui.adsabs.harvard.edu/ab
s/2005Natur.434..400C) . doi:10.1038/nature03479 (https://doi.org/10.1038%2Fnature03479) .
PMID 15772666 (https://pubmed.ncbi.nlm.nih.gov/15772666) . S2CID 4358447 (https://api.semanticsc
holar.org/CorpusID:4358447) .

11. Veneti Z, Gkouskou KK, Eliopoulos AG (July 2017). "Polycomb Repressor Complex 2 in Genomic
Instability and Cancer" (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578047) . Int J Mol Sci. 18
(8): 1657. doi:10.3390/ijms18081657 (https://doi.org/10.3390%2Fijms18081657) . PMC 5578047 (http
s://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578047) . PMID 28758948 (https://pubmed.ncbi.nlm.nih.
gov/28758948) .

12. Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes"
(https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898077) . Genome Biol. 11 (5): 206. doi:10.1186/gb-
2010-11-5-206 (https://doi.org/10.1186%2Fgb-2010-11-5-206) . PMC 2898077 (https://www.ncbi.nlm.ni
h.gov/pmc/articles/PMC2898077) . PMID 20441615 (https://pubmed.ncbi.nlm.nih.gov/20441615) .

13. "Statistics & Downloads for chromosome X" (https://www.genenames.org/cgi-bin/statistics?c=X) .


HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.

14. "Chromosome X: Chromosome summary - Homo sapiens" (http://mar2017.archive.ensembl.org/Homo_s


apiens/Location/Chromosome?r=X) . Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.

15. "Human chromosome X: entries, gene names and cross-references to MIM" (https://www.uniprot.org/doc
s/humchrx.txt) . UniProt. 2018-02-28. Retrieved 2018-03-16.

16. "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND
alive[prop]) - Gene" (https://www.ncbi.nlm.nih.gov/gene?term=X%5BCHR%5D%20AND%20%22Homo%20
sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5
D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch) . NCBI. 2017-05-19. Retrieved 2017-05-20.

17. "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR
"genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype
scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype
protein coding"[Properties] AND alive[prop]) - Gene" (https://www.ncbi.nlm.nih.gov/gene?term=X%5BCH
R%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20mi
scrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22ge
netype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%2
0%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5
D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%2
0coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch) . NCBI. 2017-
05-19. Retrieved 2017-05-20.
18. "Search results - X[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND
alive[prop]) - Gene" (https://www.ncbi.nlm.nih.gov/gene?term=X%5BCHR%5D%20AND%20%22Homo%20
sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AN
D%20alive%5Bprop%5D%29&cmd=DetailsSearch) . NCBI. 2017-05-19. Retrieved 2017-05-20.

19. Ross M, et al. (2005). "The DNA sequence of the human X chromosome" (https://www.ncbi.nlm.nih.gov/p
mc/articles/PMC2665286) . Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R (https://ui.adsa
bs.harvard.edu/abs/2005Natur.434..325R) . doi:10.1038/nature03440 (https://doi.org/10.1038%2Fnatu
re03440) . PMC 2665286 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665286) .
PMID 15772651 (https://pubmed.ncbi.nlm.nih.gov/15772651) .

20. Harold Chen; Ian Krantz; Mary L Windle; Margaret M McGovern; Paul D Petry; Bruce Buehler (2013-02-22).
"Klinefelter Syndrome Pathophysiology" (http://emedicine.medscape.com/article/945649-overview#a0
104) . Medscape. Retrieved 2014-07-18.

21. Visootsak J, Graham JM (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies" (http
s://www.ncbi.nlm.nih.gov/pmc/articles/PMC1634840) . Orphanet J Rare Dis. 1: 42. doi:10.1186/1750-
1172-1-42 (https://doi.org/10.1186%2F1750-1172-1-42) . PMC 1634840 (https://www.ncbi.nlm.nih.gov/
pmc/articles/PMC1634840) . PMID 17062147 (https://pubmed.ncbi.nlm.nih.gov/17062147) .

22. Bender B, Puck M, Salbenblatt J, Robinson A (1986). Smith S (ed.). Cognitive development of children
with sex chromosome abnormalities. San Diego: College Hill Press. pp. 175–201.

23. "Triple X syndrome" (http://ghr.nlm.nih.gov/condition/triple-x-syndrome) . Genetics Home Reference.


2014-07-14. Retrieved 2014-07-18.

24. Morgan, T. H. (1910). "Sex-limited inheritance in Drosophila" (https://zenodo.org/record/1448044) .


Science. 32 (812): 120–122. Bibcode:1910Sci....32..120M (https://ui.adsabs.harvard.edu/abs/1910Sci....
32..120M) . doi:10.1126/science.32.812.120 (https://doi.org/10.1126%2Fscience.32.812.120) .
PMID 17759620 (https://pubmed.ncbi.nlm.nih.gov/17759620) .

25. Skuse, David H. (2005-04-15). "X-linked genes and mental functioning" (https://doi.org/10.1093%2Fhmg%
2Fddi112) . Human Molecular Genetics. 14 Spec No 1: R27–32. doi:10.1093/hmg/ddi112 (https://doi.or
g/10.1093%2Fhmg%2Fddi112) . ISSN 0964-6906 (https://www.worldcat.org/issn/0964-6906) .
PMID 15809269 (https://pubmed.ncbi.nlm.nih.gov/15809269) .

26. Zhao, Min; Kong, Lei; Qu, Hong (2014-02-25). "A systems biology approach to identify intelligence
quotient score-related genomic regions, and pathways relevant to potential therapeutic treatments" (http
s://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933868) . Scientific Reports. 4: 4176.
Bibcode:2014NatSR...4E4176Z (https://ui.adsabs.harvard.edu/abs/2014NatSR...4E4176Z) .
doi:10.1038/srep04176 (https://doi.org/10.1038%2Fsrep04176) . ISSN 2045-2322 (https://www.worldc
at.org/issn/2045-2322) . PMC 3933868 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933868) .
PMID 24566931 (https://pubmed.ncbi.nlm.nih.gov/24566931) .
27. Startin, Carla M.; Fiorentini, Chiara; de Haan, Michelle; Skuse, David H. (2015-01-01). "Variation in the X-
linked EFHC2 gene is associated with social cognitive abilities in males" (https://www.ncbi.nlm.nih.gov/p
mc/articles/PMC4481314) . PLOS ONE. 10 (6): e0131604. Bibcode:2015PLoSO..1031604S (https://ui.a
dsabs.harvard.edu/abs/2015PLoSO..1031604S) . doi:10.1371/journal.pone.0131604 (https://doi.org/1
0.1371%2Fjournal.pone.0131604) . ISSN 1932-6203 (https://www.worldcat.org/issn/1932-6203) .
PMC 4481314 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481314) . PMID 26107779 (https://pu
bmed.ncbi.nlm.nih.gov/26107779) .

28. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3) (ht
tp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1) . Last update 2014-03-
04. Retrieved 2017-04-26.

29. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3) (ht
tp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1) . Last update 2015-08-
11. Retrieved 2017-04-26.

30. International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An
International System for Human Cytogenetic Nomenclature (2013) (https://books.google.com/books?id=
lGCLrh0DIwEC) . Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.

31. Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S.
(2012). Estimation of band level resolutions of human chromosome images (https://www.researchgate.n
et/publication/261304470) . In Computer Science and Software Engineering (JCSSE), 2012
International Joint Conference on. pp. 276–282. doi:10.1109/JCSSE.2012.6261965 (https://doi.org/10.1
109%2FJCSSE.2012.6261965) . ISBN 978-1-4673-1921-8. S2CID 16666470 (https://api.semanticschola
r.org/CorpusID:16666470) .

32. "p": Short arm; "q": Long arm.

33. For cytogenetic banding nomenclature, see article locus.

34. These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An
International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.

35. gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region
which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable
region; stalk: Stalk.

36. "Why men (and other male animals) die younger: It's all in the Y chromosome" (https://phys.org/news/20
20-03-men-male-animals-die-younger.html) . phys.org. Retrieved 5 April 2020.

37. Xirocostas, Zoe A.; Everingham, Susan E.; Moles, Angela T. (25 March 2020). "The sex with the reduced
sex chromosome dies earlier: a comparison across the tree of life" (https://www.ncbi.nlm.nih.gov/pmc/a
rticles/PMC7115182) . Biology Letters. 16 (3): 20190867. doi:10.1098/rsbl.2019.0867 (https://doi.org/1
0.1098%2Frsbl.2019.0867) . PMC 7115182 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC711518
2) . PMID 32126186 (https://pubmed.ncbi.nlm.nih.gov/32126186) .
38. "Scientists achieve first complete assembly of human X chromosome" (https://phys.org/news/2020-07-s
cientists-human-chromosome.html) . phys.org. Retrieved 16 August 2020.

39. Miga, Karen H.; Koren, Sergey; Rhie, Arang; Vollger, Mitchell R.; Gershman, Ariel; Bzikadze, Andrey; Brooks,
Shelise; Howe, Edmund; Porubsky, David; Logsdon, Glennis A.; Schneider, Valerie A.; Potapova, Tamara;
Wood, Jonathan; Chow, William; Armstrong, Joel; Fredrickson, Jeanne; Pak, Evgenia; Tigyi, Kristof;
Kremitzki, Milinn; Markovic, Christopher; Maduro, Valerie; Dutra, Amalia; Bouffard, Gerard G.; Chang,
Alexander M.; Hansen, Nancy F.; Wilfert, Amy B.; Thibaud-Nissen, Françoise; Schmitt, Anthony D.; Belton,
Jon-Matthew; Selvaraj, Siddarth; Dennis, Megan Y.; Soto, Daniela C.; Sahasrabudhe, Ruta; Kaya, Gulhan;
Quick, Josh; Loman, Nicholas J.; Holmes, Nadine; Loose, Matthew; Surti, Urvashi; Risques, Rosa ana;
Lindsay, Tina A. Graves; Fulton, Robert; Hall, Ira; Paten, Benedict; Howe, Kerstin; Timp, Winston; Young,
Alice; Mullikin, James C.; Pevzner, Pavel A.; Gerton, Jennifer L.; Sullivan, Beth A.; Eichler, Evan E.; Phillippy,
Adam M. (14 July 2020). "Telomere-to-telomere assembly of a complete human X chromosome" (https://
www.ncbi.nlm.nih.gov/pmc/articles/PMC7484160) . Nature. 585 (7823): 79–84.
Bibcode:2020Natur.585...79M (https://ui.adsabs.harvard.edu/abs/2020Natur.585...79M) .
doi:10.1038/s41586-020-2547-7 (https://doi.org/10.1038%2Fs41586-020-2547-7) . ISSN 1476-4687 (htt
ps://www.worldcat.org/issn/1476-4687) . PMC 7484160 (https://www.ncbi.nlm.nih.gov/pmc/articles/P
MC7484160) . PMID 32663838 (https://pubmed.ncbi.nlm.nih.gov/32663838) .

External links

Wikimedia Commons has media related to X chromosomes.

National Institutes of Health. "X chromosome" (http://ghr.nlm.nih.gov/chromosome=X) .


Genetics Home Reference. Retrieved 2017-05-06.

"X chromosome" (http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromoso


me/chromoX.shtml) . Human Genome Project Information Archive 1990–2003. Retrieved
2017-05-06.

Retrieved from
"https://en.wikipedia.org/w/index.php?
title=X_chromosome&oldid=1051656157"

Last edited 1 day ago by PatrickFisher

Wikipedia

Content is available under CC BY-SA 3.0 unless


otherwise noted.

You might also like