Chromosome 3 (human)
Chromosome 3 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 the chromosome 3
Chromosome 3 consists of 199 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 3 contains approximately 6.5% 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 1100 and 1500 genes on chromosome 3. When sequencing in May 2006 1463 protein-coding genes were found. Of these, 505 are associated with a wide variety of diseases. Also the most sensitive part of the human genome, the FHIT gene ( Fragile histidine triad), is located on chromosome 3. This gene is involved in around 50% of all esophageal , stomach and colon cancer diseases.
Known genes on chromosome 3
Chromosome 3 contains the following genes, among others:
- H4F3 : histone H4
- MITF : microphthalmia-associated transcription factor
- PROS1 : Protein S
- TPS : thrombopoietin
- SST : somatostatin
- BTD : biotinidase
- MCCC1 : α-subunit of methylcrotonoyl-CoA carboxylase
- ALAS1
- CACNA2D3
- CCR5 : CC chemokine receptor type 5
- CNTN4
- COL7A1
- MLH1
- OXTR
- PTHR1
- SCN5A
- SLC25A20
- TMIE
- VHL : Von-Hippel-Lindau tumor suppressor
- FOXP1
- CRBN
- ADIPOQ
- CAMPD1
- CPOX
- HGD
- IFT122
- PCCB
- PDCD10
- PIK3CA
- RAB7
- RHO
- SOX2
- USH3A
- ZNF9
Medical importance
The following genetically determined or predisposed diseases or symptoms are associated with the genes located on chromosome 3 . These are among others:
- Choroidal melanoma
- Aicardi-Goutières syndrome
- Alkaptonuria
- autism
- Bartter syndrome type V
- Bernard Soulier Syndrome
- Biotinidase deficiency
- Brugada syndrome
- Dandy Walker Malformation
- Epidermolysis bullosa
- Glycogen storage disease
- Hereditary coproporphyria
- Cataract
- Leucism
- Moebius syndrome
- Andersen's disease
- Hippel-Lindau disease
- Moyamoya
- Mucopolysaccharidosis
- Type 2 myotonic dystrophy
- Night blindness
- Kidney cancer
- Sucrose intolerance
- Spinocerebellar ataxia
- Ovarian cancer
- QT syndrome
Trisomy 3
see main article Trisomy 3
The trisome presence of genetic material from chromosome 3 is called trisomy 3 . A number of different symptoms can arise.
Androgenetic hair loss
The main cause of androgenetic hair loss (hereditary hair loss) is the so-called androgen receptor gene (AR), on the X chromosome . It is now known, however, that other genes have an influence on this normal type of hair loss in men. A working group at the University of Bonn found an area in area q26 on chromosome 3 that is directly related to androgenetic hair loss.
Individual evidence
- ↑ Genetics Home Reference, Chromosome 3 , as of February 29, 2008
- ↑ Max Planck Institute for Molecular Genetics, Human chromosome 3 reveals its secrets ( Memento of May 12, 2011 in the Internet Archive ), press release of May 17, 2006
- ↑ DM Muzny u. a., The DNA sequence, annotation and analysis of human chromosome 3. In: Nature , 440/2006, pp. 1194-8, PMID 16641997
- ↑ Genetics Home Reference, Conditions related to genes on chromosome 3. , As of February 29, 2008
- ↑ AM Hillmer et al. a., Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. In: Am J Hum Genet , 77/2005, pp. 140-8, PMID 15902657
- ↑ AM Hillmer et al. a., Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. In: Am J Hum Genet , 82/2008, pp. 737-43, PMID 18304493
- ↑ F. Luerweg, hair loss: " Successful search" on chromosome 3 , Science Information Service, February 21, 2008
literature
- W. Maat et al. a .: Monosomy of chromosome 3 and an inflammatory phenotype occur together in uveal melanoma. In: Invest Ophthalmol Vis Sci. 49/2008, pp. 505-10, PMID 18234992
Web links
- Ensembl - Chromosome 3 (English)
- Genetics Home Reference - Chromosome 3 (English)
- The "gene map" of chromosome 3 (English)