X Chromosome

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Introduction

Human X chromosome

Humans have 23 pairs of chromosomes, 22 autosomes and a pair of sex chromosomes. Females have a pair of X chromosomes (46, XX) and males have one X and one Y Chromosome (46, XY). This section of notes introduces the X chromosome and its role in development.

There is a separate page discussing X Inactivation that occurs in all female development with one of the X chromosomes to provide the correct gene dosage. There is a separate page discussing Trisomy X, a genetic disorder where there is an additional copy of the X chromosome. There is a separate page discussing Fragile X Syndrome, a genetic disorder where part of the X chromosome is lost.


  • Genes such as WNT4 (Wingless-Type Mmtv Integration Site Family, Member 4), NR0B1 (Nuclear Receptor Subfamily 0, Group B, Member 1; Dax-1) necessary for initiation of female pathway ovary development
  • An early discovery (1961) was that in order to have correct levels of X chromosome gene/protein expression (gene dosage), females must "inactivate" a single copy of the X chromosome in each and every cell. The initiator of the X inactivation process was discovered (1991) to be regulated by a region on the inactivating X chromosome encoding an X inactive specific transcript (XIST), that acts as RNA and does not encode a protein.
  • The genetic content of the X chromosome has been strongly conserved between species because these genes have become adapted to working as a single dose - Ohno's law
  • X inactivation occurs randomly throughout the embryo, generating a mosaic of maternal and paternally derived X chromosome activity in all tissues and organs. This can be seen in the fur colour of tortoiseshell cats.


Nucleus structure cartoon 01.jpg Chromatin Structure.png
Chromosome territories (interphase) Chromosome (Chromatin) structure (mitosis)


X Chromosome Links: X chromosome | X Inactivation | Trisomy X | Fragile X syndrome | Klinefelter syndrome | primordial germ cell | Female | epigenetics | Y chromosome | 2011 Group Project - Fragile X Syndrome | Category:X Chromosome
Genital Links: genital | Lecture - Medicine | Lecture - Science | Lecture Movie | Medicine - Practical | primordial germ cell | meiosis | Female | X | ovary | oocyte | uterus | vagina | reproductive cycles | menstrual cycle | Male | Y | testis | spermatozoa | penis | prostate | endocrine gonad‎ | Genital Movies | genital abnormalities | Assisted Reproductive Technology | puberty | Category:Genital
Historic Embryology - Genital 
1901 Urinogenital Tract | 1902 The Uro-Genital System | 1904 Ovary and Testis | 1904 Leydig Cells | 1904 Hymen | 1905 Testis vascular | 1909 Prostate | 1912 Prostate | 1912 Urinogenital Organ Development | 1914 External Genitalia | 1914 Female | 1915 Cowper’s and Bartholin’s Glands | 1920 Wolffian tubules | 1921 Urogenital Development | 1921 External Genital | 1927 Female Foetus 15 cm | 1932 Postnatal Ovary | 1935 Prepuce | 1935 Wolffian Duct | 1942 Sex Cords | 1943 Testes Descent | 1953 Germ Cells | Historic Embryology Papers | Historic Disclaimer
Human Chromosomes: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | Y  

Human idiogram.jpg

Human idiogram

Some Recent Findings

X and Y chromosomes
  • Mammalian X Chromosome Dosage Compensation: Perspectives From the Germ Line[1] "Sex chromosomes are advantageous to mammals, allowing them to adopt a genetic rather than environmental sex determination system. However, sex chromosome evolution also carries a burden, because it results in an imbalance in gene dosage between females (XX) and males (XY). This imbalance is resolved by X dosage compensation, which comprises both X chromosome inactivation and X chromosome upregulation. X dosage compensation has been well characterized in the soma, but not in the germ line. Germ cells face a special challenge, because genome wide reprogramming erases epigenetic marks responsible for maintaining the X dosage compensated state. Here we explain how evolution has influenced the gene content and germ line specialization of the mammalian sex chromosomes. We discuss new research uncovering unusual X dosage compensation states in germ cells, which we postulate influence sexual dimorphisms in germ line development and cause infertility in individuals with sex chromosome aneuploidy."
More recent papers  
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This table shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in this list based upon the date of the actual page viewing.

References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

Links: References | Discussion Page | Pubmed Most Recent | Journal Searches


Search term: X Chromosome

Cécile Courret, Pierre R Gérard, David Ogereau, Matthieu Falque, Laurence Moreau, Catherine Montchamp-Moreau X-chromosome meiotic drive in Drosophila simulans: a QTL approach reveals the complex polygenic determinism of Paris drive suppression. Heredity (Edinb): 2018; PubMed 30518968

Si-Qi Xu, Yu Zhang, Peng Wang, Wei Liu, Xian-Bo Wu, Ji-Yuan Zhou A statistical measure for the skewness of X chromosome inactivation based on family trios. BMC Genet.: 2018, 19(1);109 PubMed 30518319

Xiuyun Yuan, Yun Xia, Xiaomao Zeng ##Title## Front. Zool.: 2018, 15;47 PubMed 30505335

Rania Haddad, Brandon Meter, Joseph A Ross The Genetic Architecture of Intra-Species Hybrid Mito-Nuclear Epistasis. Front Genet: 2018, 9;481 PubMed 30505316

E A A Christou, A Banos, D Kosmara, G K Bertsias, D T Boumpas Sexual dimorphism in SLE: above and beyond sex hormones. Lupus: 2018;961203318815768 PubMed 30501463

X Chromosome Overview

  • 1400+ genes
  • 150 million base pairs
  • Contains about 5% of the haploid genome.
  • Genes encode house-keeping and specialized functions.
  • Conserved in gene content between species.
  • In females, one of the X-chromosomes is inactivated in each and every cell (known since 1961).
    • This inactivation occurs during embryogenesis.
    • X Inactivation appears to be random in somatic cells. (mosaic pattern)
    • The process starts at the "X inactivation centre" and spreads along the chromosome.

Chromosome Statistics

May 2012 (EST)

Length (bps) 155,270,560
Known Protein-coding Genes 812
Novel Protein-coding Genes 24
Pseudogene Genes 780
miRNA Genes 128
rRNA Genes 22
snRNA Genes 85
snoRNA Genes 64
Misc RNA Genes 52
SNPs 2,172,609

Ohno's law

Ohno's law is a genetic evolutionary theory that suggests that the mammalian X chromosomes are conserved among species. Named after Susumu Ohno (大野 乾 (1928 – 2000) a Japanese-American geneticist and evolutionary biologist, and seminal researcher in the field of molecular evolution.


Links: Biography | PMID 13730522 | PubMed OHNO S

Monotremes

Contrary to the above theory, the human X chromosome long arm genes are found on the monotreme X chromosome while the short arm genes are found distributed on the autosomes.

Links: Echidna | Platypus | Kangaroo | Koala |

Genetic Inheritance

The follow cartoons show how genes located on the X chromosome can have different potential inheritance patterns.

X-Linked dominant (affected father)

X-Linked dominant (affected father)

X-Linked dominant (affected mother)

X-Linked dominant (affected mother)

X-Linked recessive (affected father)

X-Linked recessive (affected father)

X-Linked recessive (carrier mother)

X-Linked recessive (carrier mother)

Inheritance Pattern images: Genetic Abnormalities | Autosomal dominant inheritance | Autosomal recessive inheritance | X-Linked dominant (affected father) | X-Linked dominant (affected mother) | X-Linked recessive (affected father) | X-Linked recessive (carrier mother) | Mitochondrial genome inheritance | Codominant inheritance | Genogram symbols | Genetics

Developmental Genes

BMP

Table - Human Bmp Family
Approved
Symbol
Approved Name Previous
Symbols
Synonyms Chromosome
BMP15 bone morphogenetic protein 15 GDF9B Xp11.22
    Links: Developmental Signals - Bone Morphogenetic Protein | OMIM BMP2 | HGNC | Bmp Family | Sox Family | Tbx Family
Human BMP Family  
Table - Human Bmp Family
Approved
Symbol
Approved Name Previous
Symbols
Synonyms Chromosome
BMP1 bone morphogenetic protein 1 PCOLC 8p21.3
BMP2 bone morphogenetic protein 2 BMP2A 20p12.3
BMP3 bone morphogenetic protein 3 4q21.21
BMP4 bone morphogenetic protein 4 BMP2B 14q22.2
BMP5 bone morphogenetic protein 5 6p12.1
BMP6 bone morphogenetic protein 6 VGR VGR1 6p24.3
BMP7 bone morphogenetic protein 7 OP-1 20q13.31
BMP8A bone morphogenetic protein 8a 1p34.3
BMP8B bone morphogenetic protein 8b BMP8 OP-2 1p34.2
BMP10 bone morphogenetic protein 10 2p13.3
BMP15 bone morphogenetic protein 15 GDF9B Xp11.22
    Links: Developmental Signals - Bone Morphogenetic Protein | OMIM BMP2 | HGNC | Bmp Family | Sox Family | Tbx Family

SOX

Table - Human Sox Family
Approved
Symbol
Approved Name Previous Symbols Synonyms Chromosome
SOX3 SRY-box 3 PHP Xq27.1
    Links: Developmental Signals - Sox | OMIM | HGNC | Tbx Family
Human SOX Family  
Table - Human Sox Family
Approved
Symbol
Approved Name Previous Symbols Synonyms Chromosome
SOX1 SRY-box 1 13q34
SOX2 SRY-box 2 3q26.33
SOX3 SRY-box 3 PHP Xq27.1
SOX4 SRY-box 4 6p22.3
SOX5 SRY-box 5 "L-SOX5, MGC35153" 12p12.1
SOX6 SRY-box 6 11p15.3
SOX7 SRY-box 7 8p23.1
SOX8 SRY-box 8 16p13.3
SOX9 SRY-box 9 "CMD1, CMPD1" SRA1 17q24.3
SOX10 SRY-box 10 "DOM, WS4, WS2E" 22q13.1
SOX11 SRY-box 11 2p25.2
SOX12 SRY-box 12 SOX22 20p13
SOX13 SRY-box 13 "Sox-13, ICA12, MGC117216" 1q32.1
SOX14 SRY-box 14 SOX28 3q22.3
SOX15 SRY-box 15 SOX20 "SOX27, SOX26" 17p13.1
SOX17 SRY-box 17 8q11.23
SOX18 SRY-box 18 20q13.33
SOX21 SRY-box 21 SOX25 13q32.1
SOX30 SRY-box 30 5q33.3
SRY sex determining region Y TDF Yp11.2
    Links: Developmental Signals - Sox | OMIM | HGNC | Tbx Family | Bmp Family | Fgf Family | Pax Family | R-spondin Family | Sox Family | Tbx Family

TBX

Table - Human Tbx Family
Approved
Symbol
Approved Name Previous Symbols Synonyms Chromosome
TBX22 T-box 22 "CPX, CLPA" Xq21.1
    Links: Developmental Signals - Tbx | OMIM Tbx3 | HGNC | Bmp Family | Sox Family | Tbx Family
Human TBX Family  
Table - Human Tbx Family
Approved
Symbol
Approved Name Previous Symbols Synonyms Chromosome
TBX1 T-box 1 VCF CATCH22 22q11.21
TBX2 T-box 2 17q23.2
TBX3 T-box 3 UMS "TBX3-ISO, XHL" 12q24.21
TBX4 T-box 4 17q23.2
TBX5 T-box 5 HOS 12q24.21
TBX6 T-box 6 16p11.2
TBX10 T-box 10 TBX7 TBX13 11q13.2
TBX15 T-box 15 TBX14 1p12
TBX18 T-box 18 6q14.3
TBX19 T-box 19 "dj747L4.1, TPIT" 1q24.2
TBX20 T-box 20 7p14.2
TBX21 T-box 21 "TBLYM, T-bet" 17q21.32
TBX22 T-box 22 "CPX, CLPA" Xq21.1
TBX23P T-box 23, pseudogene TBX23 1q25
TBR1 T-box, brain 1 2q24.2
EOMES eomesodermin TBR2 3p24.1
MGA MGA, MAX dimerization protein "KIAA0518, MAD5, MXD5, FLJ12634" 15q15
TBXT T-box transcription factor T T 6q27
    Links: Developmental Signals - Tbx | OMIM Tbx3 | HGNC | Bmp Family | Sox Family | Tbx Family

Abnormalities

Infertility

Primary ovarian insufficiency - depletion or dysfunction of ovarian follicles with cessation of menses before age 40 years.

Selected Female Infertility Genes
Gene abbreviation Name Gene Location Online Mendelian
Inheritance in Man (OMIM)
HUGO Gene Nomenclature
Committee (HGNC)
GeneCards (GCID) Diagnosis
BMP15 Bone morphogenetic protein 15 Xp11.22 300247 1068 GC0XP050910 Primary ovarian insufficiency
FMR1 Fragile X mental retardation 1 Xq27.3 309550 3775 GC0XP147912 Primary ovarian insufficiency
  Table data source[2] (table 1)    Links: fertilization | oocyte | ovary | | Female Infertility Genes | spermatozoa | testis | Male Infertility Genes | Genetic Abnormalities | ART
Female Infertility Genes  
Selected Female Infertility Genes
Gene abbreviation Name Gene Location Online Mendelian
Inheritance in Man (OMIM)
HUGO Gene Nomenclature
Committee (HGNC)
GeneCards (GCID) Diagnosis
BMP15 Bone morphogenetic protein 15 Xp11.22 300247 1068 GC0XP050910 Primary ovarian insufficiency
CLPP Caseinolytic mitochondrial matrix peptidase proteolytic subunit 19p13.3 601119 2084 GC19P006369 Primary ovarian insufficiency
EIF2B2 Eukaryotic translation initiation factor 2B subunit beta 14q24.3 606454 3258 GC14P075002 Primary ovarian insufficiency
FIGLA Folliculogenesis-specific BHLH transcription factor 2p13.3 608697 24669 GC02M070741 Primary ovarian insufficiency
FMR1 Fragile X mental retardation 1 Xq27.3 309550 3775 GC0XP147912 Primary ovarian insufficiency
FOXL2 Forkhead box L2 3q22.3 605597 1092 GC03M138944 Primary ovarian insufficiency
FSHR Follicle stimulating hormone receptor 2p16.3 136435 3969 GC02M048866 Primary ovarian insufficiency
GALT Galactose-1-phosphate uridylyltransferase 9p13.3 606999 4135 GC09P034636 Primary ovarian insufficiency
GFD9 Growth differentiation factor 9 5q31.1 601918 4224 GC05M132861 Primary ovarian insufficiency
HARS2 Histidyl-TRNA synthetase 2, mitochondrial 5q31.3 600783 4817 GC05P141975 Primary ovarian insufficiency
HFM1 HFM1, ATP-dependent DNA helicase homolog 1p22.2 615684 20193 GC01M091260 Primary ovarian insufficiency
HSD17B4 Hydroxysteroid 17-beta dehydrogenase 4 5q23.1 601860 5213 GC05P119452 Primary ovarian insufficiency
LARS2 Leucyl-TRNA synthetase 2, mitochondrial 3p21.31 604544 17095 GC03P045405 Primary ovarian insufficiency
LHCGR Luteinizing hormone/choriogonadotropin receptor 2p16.3 152790 6585 GC02M048647 Primary ovarian insufficiency
LHX8 LIM homeobox 8 1p31.1 604425 28838 GC01P075128 Primary ovarian insufficiency
MCM8 Minichromosome maintenance 8 homologous recombination repair factor 20p12.3 608187 16147 GC20P005926 Primary ovarian insufficiency
MCM9 Minichromosome maintenance 9 homologous recombination repair factor 6q22.31 610098 21484 GC06M118813 Primary ovarian insufficiency
NOBOX NOBOX oogenesis homeobox 7q35 610934 22448 GC07M144397 Primary ovarian insufficiency
NOG Noggin 17q22 602991 7866 GC17P056593 Primary ovarian insufficiency
PMM2 Phosphomannomutase 2 16p13.2 601785 9115 GC16P008788 Primary ovarian insufficiency
POLG DNA polymerase gamma, catalytic subunit 15q26.1 174763 9179 GC15M089316 Primary ovarian insufficiency
REC8 REC8 meiotic recombination protein 14q12 608193 16879 GC14P024171 Primary ovarian insufficiency
SMC1B Structural maintenance of chromosomes 1B 22q13.31 608685 11112 GC22M045344 Primary ovarian insufficiency
SOHLH1 Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 9q34.3 610224 27845 GC09M135693 Primary ovarian insufficiency
STAG3 Stromal antigen 3 7q22.1 {{Chr 608489 11356 GC07P100177 Primary ovarian insufficiency
SYCE1 Synaptonemal Complex Central Element Protein 1 10q26.3 611486 28852 GC10M133553 Primary ovarian insufficiency
TLE6 Transducin-like enhancer of split 6 19p13.3 612399 30788 GC19P002976 Embryonic lethalithy
TUBB8 Tubulin beta 8 Class VIII 10p15.3 616768 20773 GC10M000048 Oocyte maturation arrest
TWNK Twinkle MtDNA helicase 10q24.31 606075 1160 GC10P100991 Primary ovarian insufficiency
  Table data source[2] (table 1)    Links: fertilization | oocyte | ovary | | Female Infertility Genes | spermatozoa | testis | Male Infertility Genes | Genetic Abnormalities | ART

 Primary ovarian insufficiency - depletion or dysfunction of ovarian follicles with cessation of menses before age 40 years.
 Oocyte maturation arrest - arrest of human oocytes may occur at different stages of meiosis.

Selected genes in Male Infertility
Gene abbreviation Name Gene Location Online Mendelian
Inheritance in Man (OMIM)
HUGO Gene Nomenclature
Committee (HGNC)
GeneCards (GCID) Diagnosis
MAGEB4 MAGE family member B4 Xp21.2 300153 6811 GC0XP030260 Azoospermia
TEX11 Testis expressed 11 Xq13.1 300311 11733 GC0XM070528 Azoospermia
  Table data source[2] (table 1)    Links: fertilization | spermatozoa | testis | Male Infertility Genes | Female Infertility Genes | oocyte | ovary | Genetic Abnormalities | ART


Male Infertility Genes  
Selected genes in Male Infertility
Gene abbreviation Name Gene Location Online Mendelian
Inheritance in Man (OMIM)
HUGO Gene Nomenclature
Committee (HGNC)
GeneCards (GCID) Diagnosis
AURKC Aurora kinase C 19q13.43 603495 11391 GC19P057230 Macrozoospermia
CATSPER1 Cation channel sperm-associated 1 11q13.1 606389 17116 GC11M066034 Asthenozoospermia
CFTR Cystic fibrosis transmembrane conductance regulator 7q31.2 602421 1884 GC07P117465 Obstructive azoospermia
DNAH1 Dynein axonemal heavy chain 1 3p21.1 603332 2940 GC03P052350 Asthenozoospermia
DPY19L2 Dpy-19-like 2 gene 12q14.2 613893 19414 GC12M063558 Globozoospermia
GALNTL5 Polypeptide N-acetylgalactosaminyltransferase-like 5 7q36.1 615133 21725 GC07P151956 Asthenozoospermia
MAGEB4 MAGE family member B4 Xp21.2 300153 6811 GC0XP030260 Azoospermia
NANOS1 Nanos C2HC-type zinc finger 1 10q26.11 608226 23044 GC10P119029 Azoospermia
NR0B1 Nuclear receptor subfamily 0 group B member 1 Xp21.2 300473 7960 GC0XM030322 Azoospermia
NR5A1 Nuclear receptor subfamily 5 group A member 1 9q33.3 184757 7983 GC09M124481 Azoospermia
SOHLH1 Spermatogenesis and oogenesis-specific basic helix–loop–helix 1 9q34.3 610224 27845 C09M135693 Azoospermia
vSPATA16 Spermatogenesis-associated 16 3q26.31 609856 29935 GC03M172889 Globozoospermia
SYCE1 Synaptonemal complex central element protein 1 10q26.3 611486 28852 GC10M133553 Azoospermia
TAF4B TATA-box binding protein-associated factor 4b 18q11.2 601689 11538 GC18P026225 Azoospermia
TEX11 Testis expressed 11 Xq13.1 300311 11733 GC0XM070528 Azoospermia
TEX15 Testis expressed 15, meiosis and synapsis associated 8p12 605795 11738 GC08M030808 Azoospermia
WT1 Wilms tumour 1 8p12 607102 12796 GC11M032365 Azoospermia
ZMYND15 Zinc-finger MYND-type containing 15 17p13.2 614312 20997 GC17P004740 Azoospermia
  Table data source[2] (table 1)    Links: fertilization | spermatozoa | testis | Male Infertility Genes | Female Infertility Genes | oocyte | ovary | Genetic Abnormalities | ART

  Asthenozoospermia - (asthenospermia) term for reduced spermatozoa motility. Azoospermia - term for no spermatozoa located in the ejaculate. Globozoospermia - term for spermatozoa with a round head and no acrosome.

References

  1. Sangrithi MN & Turner JMA. (2018). Mammalian X Chromosome Dosage Compensation: Perspectives From the Germ Line. Bioessays , , . PMID: 29756331 DOI.
  2. 2.0 2.1 2.2 2.3 Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S & Macek M. (2018). Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur. J. Hum. Genet. , 26, 12-33. PMID: 29199274 DOI.


Articles

Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glöckner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Müller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J & Bentley DR. (2005). The DNA sequence of the human X chromosome. Nature , 434, 325-37. PMID: 15772651 DOI.

Emerson JJ, Kaessmann H, Betrán E & Long M. (2004). Extensive gene traffic on the mammalian X chromosome. Science , 303, 537-40. PMID: 14739461 DOI.

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Idiogram Chromosome Banding - The term refers to the light and dark pattern, seen after staining with a dye, of individual chromosomes identified in metaphase. It is only in meiosis and mitosis during metaphase that chromosomes can be easily identified, during the normal cell life (interphase) the chromosomes are unravelled and distributed within the nucleus in chromosome territories. A band is that part of a chromosome which is clearly distinguishable from nearby regions by appearing darker or brighter with one or more banding techniques.
Human Idiogram: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | X | Y
Genetic abnormality locations: 1-4 | 5-8 | 9-12 | 13-16 | 17-20 | 21-XY | sSMC
Inheritance Pattern images: Genetic Abnormalities | Autosomal dominant inheritance | Autosomal recessive inheritance | X-Linked dominant (affected father) | X-Linked dominant (affected mother) | X-Linked recessive (affected father) | X-Linked recessive (carrier mother) | Mitochondrial genome inheritance | Codominant inheritance | Genogram symbols | Genetics
Links: Genetics | Abnormal Development - Genetic

Cite this page: Hill, M.A. (2018, December 11) Embryology X Chromosome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/X_Chromosome

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© Dr Mark Hill 2018, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G