OMIA:000392 : Fragile site

Categories: Chromosomal disorder

Possible human homologues (MIM numbers): 136540 (trait) , 616109 (gene) , 136570 (trait) , 136580 (trait) , 136590 (trait) , 601464 (gene) , 136620 (trait) , 136640 (trait) , 601153 (gene) , 136660 (trait) , 600651 (trait) , 601153 (gene)

Cross-species summary: A site on a chromosome that does not stain, at which a break in the chromosome often occurs. In cultured cells, chromosomal breakage at fragile sites can be induced by the addition of caffeine or aphidicolon or bromodeoxyuridine to the culture medium. In humans, fragile sites are sometimes associated with tandem repeats of three nucleotides (triplet microsatellites) which, if the number of repeats increases, can cause inherited disorders. No such examples have yet been documented in domesticated animals.

Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)
horse (Equus caballus)
pig (Sus scrofa)
sheep (Ovis aries)
raccoon dog (Nyctereutes procyonoides)

Edit History

  • Created by Frank Nicholas on 02 May 2008
  • Changed by Frank Nicholas on 14 Feb 2012
  • Changed by Frank Nicholas on 13 Sep 2018
  • Changed by Imke Tammen2 on 13 Oct 2022