Chromosome 1 (human)
Chromosome 1 is one of 23 chromosomes pairs of people . A normal person has two largely identical copies of this chromosome in most of his cells . It is the largest human chromosome.
Decoding the chromosome 1
The DNA of the chromosome 1 consists of about 247 million base pairs . Chromosome 1 contains approximately 8% 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. Chromosome 1 was sequenced as the last human chromosome as part of the human genome project 2005/2006 . Thereby, 3141 genes and 991 pseudo-genes (no longer functional, “switched off” genes) were identified on chromosome 1. This means that chromosome 1 has a particularly high gene density compared to the other chromosomes. The human chromosome 1 is homologous to that of the chimpanzee . That is, both have very similar content.
Known genes on chromosome 1
Chromosome 1 contains the following genes, among others:
- AGT : angiotensinogen
- The two genes of the rhesus system (rhesus factor)
- Brain Natriuretic Peptides
- NPHS2 : Podocin
- NRAS : Ras
- KISS1 : Kisspeptin
- SRP9 : Signal Recognition Particle 9 kDa
- COL11A1
- ACADM
- CPT2
- DBT : dihydrolipoyl transacylase
- DIRAS3 : tumor suppressor
- ESPN
- GALE : UDP-glucose-4-epimerase
- GJB3
- HMGCL : hydroxymethylglutaryl-CoA lyase
- KCNQ4
- KIF1B
- MFN2
- MTHFR
- MUTYH
- NGF : nerve growth factor
- PARK7
- PINK1
- PKLR : pyruvate kinase
- PLOD1
- TACSTD2
- TSHB
- UROD : uroporphyrinogen decarboxylase
- ASPM
- CRP : C-reactive protein
- F5 : Proaccelerin
- FMO3
- GBA : glucocerebrosidase
- GLC1A
- HFE2
- HPC1
- IRF6
- LMNA
- MPZ : myelin protein zero
- MTR : methionine synthase
- PPOX
- PSEN2
- SDHB
- TNNT2
- USH2A
Medical importance
Due to its size and the large number of known genes, the genes on chromosome 1 are associated with a large number of genetically determined or predisposed diseases . So far, a connection with the genes on chromosome 1 has been seen in 890 hereditary diseases or predispositions. These are among others:
- Alzheimer's disease
- Bartter syndrome type III and type IV
- Breast cancer
- Chediak-Higashi Syndrome
- Ehlers-Danlos Syndrome
- Focal segmental glomerulosclerosis , steroid resistant with autosomal recessive inheritance
- Factor V Leiden
- glaucoma
- Hemochromatosis
- Li Fraumeni Syndrome
- Medium chain acyl CoA dehydrogenase deficiency
- Microcephaly
- Charcot-Marie-Tooth disease
- Crohn's disease
- Gaucher's disease
- Myoadenylate deaminase deficiency
- Parkinson's Disease
- Periodic paralysis
- Pheochromocytoma
- Porphyria
- Progeria
- Giant cell tumor
- Hearing loss
- Trimethylaminuria
- Usher Syndrome
Individual evidence
- ↑ a b S. G. Gregory et al .: The DNA sequence and biological annotation of human chromosome 1. Nature . 2006; 441 (7091): 315-21. PMID 16710414 . Full text (pdf)
- ↑ Genetics Home Reference, Conditions related to genes on chromosome 1. , as of February 29, 2008
- ↑ Bachinski et al. a .: Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23 . In: Cancer Res . 65, 2005, pp. 427-431. PMID 15695383
- ↑ R. Sciot et al. a .: Analysis of 35 cases of localized and diffuse tenosynovial giant cell tumor: a report from the Chromosomes and Morphology (CHAMP) study group. In: Mod Pathol , 12/2000, pp. 576-579.
- ↑ GS Vogrincic et al. a .: Giant cell tumor of tendon sheath is a polyclonal cellular proliferation. In: Hum Pathol , 28/1997, pp. 815-819
literature
- WJ Murphy et al. a .: The origin of human chromosome 1 and its homologs in placental mammals. In: Genome Res. 13/2003, pp. 1880-8, PMID 12869576 .
Web links
- Ensembl - Chromosome 1 (English)
- Genetics Home Reference - Chromosome 1 (English)
- The “gene map” of chromosome 1
- Chromosome 1 - genome completely deciphered. In: Focus , May 18, 2006 edition