Chromosome 3 (human)

Chromosome 3 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.

Decryption of chromosome 3

The chromosome 3 consists of 199 million base pairs. A base pair is the smallest information unit of DNA. Chromosome 3 containing approximately 6.5 % 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. On chromosome 3 are 1100-1500 genes. When sequencing in May 2006 1463 protein - coding genes were found. Of 505 associated with a variety of diseases. Even the most sensitive area of the human genome, the FHIT gene ( fragile histidine triad ), is located on chromosome 3 This gene is involved in about 50 % of all esophageal, stomach and colorectal disease.

Known genes on chromosome 3

The chromosome 3 contains the following genes:

  • H4F3: histone H4
  • MITF: microphthalmia -associated transcription factor
  • PROS1: Protein S
  • TPS: thrombopoietin
  • SST: Somatostatin
  • BTD: biotinidase
  • MCCC1: α - subunit of Methylcrotonoyl -CoA carboxylase

Medical importance

With the genes located on the chromosome 3, the following genetic diseases or prädispositionierte or symptoms associated. These include:

  • Uveal melanoma
  • Aicardi syndrome Goutières
  • Alkaptonuria
  • Autism
  • Bartter syndrome type V
  • Bernard- Soulier syndrome
  • Biotinidase
  • Brugada syndrome
  • Dandy-Walker malformation
  • Epidermolysis bullosa
  • Glycogen Storage Disease
  • Hereditary coproporphyria
  • Cataract
  • Leucism
  • Crohn Andersen
  • Crohn Hippel -Lindau
  • Moyamoya
  • Mucopolysaccharidosis
  • Myotonic dystrophy type 2
  • Night-blindness
  • Kidney cancer
  • Sucrose intolerance
  • Spinocerebellar ataxia
  • Ovarian cancer
  • QT syndrome

Trisomy 3

Main article: Trisomy 3

The triple ( trisomic ) presence of genetic material of chromosome 3 is called trisomy 3. A number of different symptoms can occur here.

Androgenetic hair loss

The main cause of androgenetic alopecia ( hereditary hair loss ) is the so-called androgen receptor gene ( AR) on the X chromosome. We know now, however, that other genes have an influence on this normal type of hair loss in men. A working group of the University of Bonn found in the area q26 on chromosome 3, a region which is directly related to the androgenetic alopecia.

Stomach cancer Bernard–Soulier syndrome Biotinidase deficiency Dandy–Walker syndrome Moyamoya disease
188845
de