Chromosome 11 (human)

Human chromosome 11 idiogram

Chromosome 11 is one of 23 chromosomes pairs of people . In most of his cells there is a diploid set of chromosomes , which thus contains two copies of this chromosome: the copy of a maternal and a copy of a paternal.

Decoding the chromosome 11

Chromosome 11 consists of 134 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 11 contains about 4 to 4.5% of the total DNA of a human cell . Identifying the genes on this chromosome is part of an ongoing process of deciphering the human genome. There are between 1300 and 1900 genes on chromosome 11. So far, 1368 of them are known.

Although chromosome 11 is only a medium-sized human chromosome, it carries an extremely large number of genes. As a result, many diseases and symptoms (171 in 2006) have their origin in mutations and disorders of the genes of this chromosome. 765 pseudogenes , i.e. genes that are no longer functional (“switched off”), were identified in 2006 during DNA sequencing.

Known genes on chromosome 11

Chromosome 11 contains the following genes, among others:

• ADM : Adrenomedullin
• BAD : Bcl-2 antagonist of cell death
• LIM motif oncogenes
• LYVE1 : Endothelial hyaluronic acid receptor 1 of the lymph vessels
• TCN1 : transcobalamin
• C1IN : C1 esterase inhibitor
• C11orf30 : protein EMSY
• CGRP : Calcitonin Gene-Related Peptide
• PAX6 : PAX gene 6
• KCNJ1 : Renal Outer Medullary Potassium channel
• WT-1 : Wilms tumor suppressor gene
• ApoA-I / -IV / -V / ApoC-III : apolipoprotein
• L-CPT1 : Carnitine acyltransferase system 1
• TRIM5 : TRIM5alpha ( TRIpartite Motif )
• DHCR7 : 7-dehydrocholesterol reductase
• insulin
• Insulin-like growth factors (IGF): gene for insulin-like growth factor 2 (IGF 2)

Medical importance

The 46 human chromosomes.

The genes on chromosome 11 are associated with the following genetic diseases or symptoms , among others :

• Acute intermittent porphyria
• Oculocutaneous albinism type 1
• Aniridia
• Bartter syndrome type II
• Beckwith-Wiedemann syndrome
• Bladder cancer
• Breast cancer
• Denys-Drash Syndrome
• Emanuel Syndrome
• Focal segmental glomerulosclerosis
• Jacobsen Syndrome
• Louis Bar Syndrome
• Nephroblastoma
• Niemann-Pick disease type A + B
• Sickle cell anemia
• Smith-Lemli-Opitz syndrome
• Thalassemia
• Papillon-Lefèvre syndrome
• Potocki-Shaffer Syndrome

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 11 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 11 , accessed March 13, 2008
3. ↑ TD Taylor et al.: Human chromosome 11 DNA sequence and analysis including novel gene identification. In: Nature , 440/2006, pp. 497-500. PMID 16554811
4. ↑ genecards.org
5. ↑ David Owerbach, Graeme I. Bell, William J. Rutter & Thomas B. Shows †: The insulin gene is located on chromosome 11 in humans, Nature 286, 82 - 84 (03 July 1980)
6. ^ KL O'Malley and P. Rotwein: Human tyrosine hydroxylase and insulin genes are contiguous on chromosome 11, Nucleic Acids Res. 1988 May 25; 16 (10): 4437-4446.
7. ^ IGF2 on Genetics Home Reference
8. ↑ Genetics Home Reference, Conditions related to genes on chromosome 11. , as of February 29, 2008
9. ^ Papillon-Lefèvre syndrome.  In: Online Mendelian Inheritance in Man . (English).
10. ^ Potocki-Shaffer syndrome.  In: Online Mendelian Inheritance in Man . (English).

literature

• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. In: Genet Test , 4/2000, pp. 409-26. PMID 11216668

Web links

• Ensembl - Chromosome 11 (English)
• Genetics Home Reference - chromosome 11 (English)
• The "gene map" of chromosome 11 (English)