Chromosome 1 (human)

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Human chromosome 1 idiogram

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:

Medical importance

The human chromosomes. Top left: chromosome 1

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:

Individual evidence

  1. 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)
  2. Genetics Home Reference, Conditions related to genes on chromosome 1. , as of February 29, 2008
  3. 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
  4. 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.
  5. GS Vogrincic et al. a .: Giant cell tumor of tendon sheath is a polyclonal cellular proliferation. In: Hum Pathol , 28/1997, pp. 815-819


  • 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 .

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