X chromosome: Difference between revisions
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==Diseases== | ==Diseases== | ||
[[File:Human idiogram- X chromosome diseases.jpg|thumb|Some X chromosome disease locations]] | [[File:Human idiogram- X chromosome diseases.jpg|thumb|Some X chromosome disease locations]] | ||
ICD11 | |||
* LD50 Number anomalies of chromosome X | |||
* LD51 Structural anomalies of chromosome X, excluding Turner syndrome | |||
===Inheritance Pattern Images=== | ===Inheritance Pattern Images=== | ||
[[File:X-Linked_dominant_(affected_father).jpg|X-Linked dominant (affected father)]] [[File:X-Linked_dominant_(affected_mother).jpg|X-Linked dominant (affected mother)]] | [[File:X-Linked_dominant_(affected_father).jpg|X-Linked dominant (affected father)]] [[File:X-Linked_dominant_(affected_mother).jpg|X-Linked dominant (affected mother)]] |
Revision as of 16:11, 27 September 2018
Embryology - 16 Jun 2024 Expand to Translate |
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Introduction
A snapshot of the human X chromosome.
- 155 million base pairs
- In contrast to the Y chromosome, the X chromosome contains about 5% of the haploid genome and encodes house-keeping and specialized functions.
- Genes such as Wnt-4 and 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.
In birds, the females have a different sex chromosome, the W chromosome. Though this chromosome does not contain genes that lead to the development of a female.[1] (The male bird has a Z chromosome PMID: 9326938) (More? Chicken Development)
- Links: Genital - Female Development | X Inactivation | Genetic abnormality locations chromosomes 21-XY
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: X chromosome <pubmed limit=5>X chromosome-determining</pubmed> |
Human Chromosomes
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
X Inactivation
The presence in females of 2 X chromosome raises the issue of gene dosage, in the case of mammals this is regulated by inactivating one of the X chromosomes.
To balance expression with the autosomal chromosomes the dosage imbalance is then adjusted by doubling expression of X-linked genes in both sexes. In some other species compensation occurs by increasing the expression of X in males.
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Diseases
ICD11
- LD50 Number anomalies of chromosome X
- LD51 Structural anomalies of chromosome X, excluding Turner syndrome
Inheritance Pattern Images
Trisomy X
Fragile X
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- NCBI Genome View - X chromosome
- Ensembl Ensembl - X chromosome
- OMIM OMIM - Xist
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, June 16) Embryology X chromosome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/X_chromosome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
- ↑ Evolutionary analysis of the female-specific avian W chromosome http://www.nature.com/ncomms/2015/150604/ncomms8330/full/ncomms8330.html
- ↑ <pubmed>24485832</pubmed>
- ↑ McLaughlin CR, Chadwick BP. Characterization of DXZ4 conservation in primates implies important functional roles for CTCF binding, array expression and tandem repeat organization on the X chromosome. Genome Biol. 2011 Apr 13;12(4):R37. PMID: 21489251 | Genome Biol.