Chromosome 17 (human)

Human chromosome 17 idiogram

Chromosome 17 is one of 23 chromosomes pairs of people . A normal person has two largely identical copies of this chromosome in most of his cells .

Decoding of chromosome 17

Chromosome 17 consists of 78.8 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 17 contains about 2.5 to 3% 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 1200 and 1500 genes on chromosome 17. So far, 1217 of them are known. Chromosome 17 has the second highest gene density of the human chromosomes.

Known genes on chromosome 17

Chromosome 17 contains the following genes, among others:

• Heterochromatin Protein 1 : Heterochromatin Protein 1
• MAPT : tau protein
• G-CSF : Granulocyte Colony Stimulating Factor
• p53 : tumor suppressor protein p53
• SHBG : sex hormone binding globulin
• H3F3B : H3 histone 3B
• Glial fibrillary acidic protein : GFAP, glial fibrillary acidic protein
• SRP68 : Signal Recognition Particle 68kDa
• BRIP-1
• BIRC5 : Survivin
• Cytoglobin
• Glycoprotein Ib-alpha
• BRCA1
• Transcription factor 2 (TCF-2, HNF2B)
• Peptide YY
• Pancreatic hormone
• COL1A1 : collagen type I, alpha 1

Medical importance

The 46 human chromosomes.

The genes on chromosome 17 are associated with the following genetic diseases or symptoms . These are among others:

• Alexander disease
• Andersen-Tawil Syndrome
• Bernard Soulier Syndrome
• Breast cancer (see: BRCA1 )
• Canavan disease
• Carney complex
• Cystinosis
• Fanconi anemia
• Frontotemporal dementia
• Li Fraumeni Syndrome
• Miller-Dieker Syndrome
• Naegeli syndrome
• MODY type 5
• Charcot-Marie-Tooth disease
• Neurofibromatosis type 1
• Osteogenesis imperfecta
• Silver-Russell syndrome
• Sjogren Larsson Syndrome
• Smith-Magenis Syndrome
• unipolar depression
• Usher Syndrome
• Variable immunodeficiency syndrome

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 17 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 17 , accessed March 21, 2008
3. ↑ MC Zody et al.: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. In: Nature , 440/2006, pp. 1045-9. PMID 16625196
4. ↑ Genetics Home Reference, Conditions related to genes on chromosome 17. , As of February 29, 2008
5. ↑ B. Frank et al: BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. In: BMC Cancer , 7/2007, p. 83 PMID 17504528

literature

• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. In: Genet Test , 2/1999, pp. 357-81. PMID 10464617

Web links

• Ensembl - Chromosome 17 (English)
• Genetics Home Reference - Chromosome 17 (English)
• The genetic map of chromosome 17 (English)
• The gene map of chromosome 17 with the associated diseases or syndromes (English)
• Analysis of the building blocks of the genome of tumor cells, Heidelberg University