Genetics - Chromosome 11

From Embryology

Introduction

11

Chromosome 11 consists of 135 million DNA base pairs and contains between 4 to 4.5 percent of the total DNA in cells.

Nucleus structure cartoon 01.jpg Chromatin Structure.png
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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Search term: Chromosome 11

<pubmed limit=5>Chromosome 11</pubmed>

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  
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[1] (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.

External Links

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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  
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. (2019, January 17) Embryology Genetics - Chromosome 11. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_11

What Links Here?
© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G



Cite this page: Hill, M.A. (2019, January 17) Embryology Genetics - Chromosome 11. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Genetics_-_Chromosome_11

What Links Here?
© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
  1. 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.