OMIA 000392-9940 : Fragile site in Ovis aries

In other species: domestic cat , dog , pig , horse , raccoon dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 136540 , 616109 , 136570 , 136580 , 136590 , 601464 , 136620 , 136640 , 601153 , 136660 , 600651 , 601153

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2008 Ali, A., Abdullah, M., Babar, M.E., Javed, K., Nadeem, A. :
Expression and identification of folate-sensitive fragile sites in British Suffolk sheep (Ovis aries). J Genet 87:219-27, 2008. Pubmed reference: 19147906.
1990 Matejka, M., Cribiu, E.P., Ricordeau, G., Eychenne, F., Durand, V., Lajous, D., Darre, R. :
Evidence for Rare Heritable Fragile Site in Romanov Sheep Chromosome-8 Reproduction in Domestic Animals 25:220-226, 1990.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005