Chromosome 1 (human)

Chromosome 1 is one of 23 pairs of chromosomes in humans. A normal person has two nearly identical copies of this chromosome in most of its cells. It is the largest chromosome of man.

Decryption of chromosome 1

The DNA of chromosome 1 consists of about 247 million base pairs. Chromosome 1 contains approximately 8 % of the total DNA of a human cell. The identification of the genes on this chromosome is the part of the ongoing process of the human genome. The chromosome 1 was sequenced as part of the Human Genome Project 2005/2006 as the last human chromosome. In this case ( not functional, " disconnected " genes) 3141 genes and pseudo - genes have been identified 991 on chromosome 1. Thus, the chromosome 1, in comparison to the other chromosomes, a very high gene density. Human chromosome 1 is homologous to that of the chimpanzee. That is, both have a very similar content.

Known genes on chromosome 1

Chromosome 1 contains the following genes:

  • Angiotensinogen
  • The two genes of Rhesus system ( Rh factor )
  • Brain Natriuretic Peptide
  • NPHS2: Podocin
  • NRAS: Ras
  • KISS1: Kisspeptin
  • SRP9: Signal recognition particle 9 kDa

Medical importance

Due to its size and the large number of genes known to be associated with pronounced the genes located on chromosome 1, many genetic diseases or prädispositionierte. To date, 890 hereditary diseases or predispositions a relationship with the genes located on chromosome 1 is seen. These include:

  • 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
  • Microcephaly
  • Charcot -Marie -Tooth
  • Crohn's disease
  • Gaucher disease
  • Parkinson 's disease
  • Periodic paralysis
  • Pheochromocytoma
  • Porphyria
  • Progeria
  • Giant cell tumor
  • Hardness of hearing
  • Trimethylaminuria
  • Usher syndrome
Pseudogene Chédiak–Higashi syndrome Ehlers–Danlos syndrome Drug resistance Autosome Recessive trait Li–Fraumeni syndrome Giant-cell tumor of bone Cancer Research (journal)
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