Genetics - Chromosome 11: Difference between revisions
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==Introduction== | ==Introduction== | ||
[[File:Human idiogram-chromosome 11.jpg|thumb|11]] | [[File:Human idiogram-chromosome 11.jpg|thumb|11]] | ||
Chromosome 11 consists of 135 million DNA base pairs and contains between 4 to 4.5 percent of the total DNA in cells. | |||
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Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Chromosome+11 ''Chromosome 11''] | Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Chromosome+11 ''Chromosome 11''] | ||
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=== | ==Development Genes== | ||
==Disease Genes== | |||
'''Oculocutaneous albinism type IA''' (OCA1A) {{Chr11}}q14 is caused by homozygous or compound heterozygous mutation in the tyrosinase gene (TYR; 606933). (More? [https://www.omim.org/entry/203100 OMIM 203100 OCA1A] | [[:File:Oculocutaneous albinism eyes.jpg|Oculocutaneous albinism eyes]]) | |||
'''Male Infertility''' - Cation channel sperm-associated 1 (CATSPER1) {{Chr11}}q13.1 causes asthenozoospermia (asthenospermia) resulting in reduced {{spermatozoa}} motility. (More? [https://www.omim.org/entry/606389 OMIM 606389] || [https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:17116 HGNC 17116] | [https://www.genecards.org/cgi-bin/carddisp.pl?gene=GC11M066034 GeneCards GC11M066034]) | |||
{{Male Infertility Genes collapse table 1}} | |||
==Abnormalities== | |||
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| {{ICD-11}} {{ICD11weblink}}237602200 LD44.B0 Deletions of the long arm of chromosome 11] | |||
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Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome {{Chr11}}.{{#pmid:19267933|PMID19267933}} | |||
:'''Links:''' [[Monosomy]] | |||
==External Links== | ==External Links== | ||
{{External Links}} | {{External Links}} |
Latest revision as of 12:29, 15 April 2019
Introduction
Chromosome 11 consists of 135 million DNA base pairs and contains between 4 to 4.5 percent of the total DNA in cells.
Chromosome territories (interphase) | Chromosome (Chromatin) structure (mitosis) |
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 |
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: Chromosome 11 |
Development Genes
Disease Genes
Oculocutaneous albinism type IA (OCA1A) 11q14 is caused by homozygous or compound heterozygous mutation in the tyrosinase gene (TYR; 606933). (More? OMIM 203100 OCA1A | Oculocutaneous albinism eyes)
Male Infertility - Cation channel sperm-associated 1 (CATSPER1) 11q13.1 causes asthenozoospermia (asthenospermia) resulting in reduced spermatozoa motility. (More? OMIM 606389 || HGNC 17116 | GeneCards GC11M066034)
Male Infertility Genes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Abnormalities
ICD-11 LD44.B0 Deletions of the long arm of chromosome 11 |
Jacobsen syndrome (JS) is a rare partial deletion of the long arm of chromosome 11.[2]
- Links: Monosomy
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.
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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. | |
Genetic abnormality locations: 1-4 | 5-8 | 9-12 | 13-16 | 17-20 | 21-XY | sSMC | |
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Links: Genetics | Abnormal Development - Genetic |
Cite this page: Hill, M.A. (2024, June 14) Embryology Genetics - Chromosome 11. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_11
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
Cite this page: Hill, M.A. (2024, June 14) Embryology Genetics - Chromosome 11. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_11
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
- ↑ 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.
- ↑ Mattina T, Perrotta CS & Grossfeld P. (2009). Jacobsen syndrome. Orphanet J Rare Dis , 4, 9. PMID: 19267933 DOI.