Chromosome 7 (human)
Chromosome 7 is one of 23 chromosomes pairs of people . A normal person has two largely identical copies of this chromosome in most of his cells .
construction
Chromosome 7 consists of approximately 158 million base pairs . There are around 58 million on the short arm, almost 97 million on the long arm and 2.7 million on the centromere . The smallest gene is 174 base pairs long (hY3 cytoplasmic Ro RNA) and the largest is 2300 kb (CNTNAP2). Chromosome 7 represents about 5 to 5.5% of the total DNA of a human cell.
It is estimated that chromosome 7 contains between 1000 and 1500 genes . Among other things, it contains the Homeobox A gene cluster.
Decoding of chromosome 7
In May 2003, an approximately 100-strong working group made up of five American and one German research institutes published their research results on the decoding of chromosome 7. This chromosome is of great medical interest because it contains a large number of genes that are defective or mutated form can lead to various diseases such as cystic fibrosis . The working group identified 1150 genes and 941 pseudo-genes . Pseudo-genes are no longer functional ("switched off") genes. At around 45%, the proportion of pseudo-genes is very high. The number of genes that are present twice on the chromosome - so-called duplicons - is 8.2%.
Known genes on chromosome 7
Chromosome 7 contains the following genes, among others:
- CFTR : Cystic Fibrosis Transmembrane Conductance Regulator
- ELN : elastin
- FOXP2 : fork head box protein P2
- KCNH2 : HERG canal
- RELN : Reelin
- VGF : VGF (neuropeptide)
- PDGFA : Platelet Derived Growth Factor
- MEST : Mesoderm-specific transcript
- Neuropeptide
- Pendrin
Medical importance
The following genetic diseases are related to the genes on chromosome 7 (selection):
- Argininosuccino aciduria
- Chromosome 7q syndrome
- Cavernoma
- autism
- Silver-Russell syndrome
- Charcot-Marie-Tooth disease
- Citrullinemia
- CAVD (unilateral absence of spermatic cords)
- Cystic fibrosis
- Ehlers-Danlos Syndrome
- Type 3 hemochromatosis
- Hereditary non-polyposis colorectal cancer
- Williams-Beuren Syndrome
- Lissencephaly
- Maple syrup disease
- MODY (type 3 diabetes)
- Sly syndrome ( mucopolysaccharidosis type VII )
- Myotonia congenita Becker
- Myotonia congenita Thomsen
- Pendred syndrome
Individual evidence
- ^ The Chromosome 7 Annotation Project , accessed March 6, 2008
- ↑ SW Scherer u. a., Human chromosome 7: DNA sequence and biology. In: Science , 300/2003, pp. 767-72, PMID 12690205
- ↑ WW Merkel, researchers decode chromosome 7. In Die Welt , issue of July 10, 2003
Web links
- Ensembl - Chromosome 7 (English)
- Chromosome 7 - The Internet presence of the research team (English)
- Genetics Home Reference - chromosomes 7 (English)
- Sabine Strecker: Human chromosome 7 has been deciphered. Hereditary factors for autism and leukemia discovered. In: Berliner Zeitung . April 14, 2003, accessed June 10, 2015 .