OMIA:000392-9940 : Fragile site in Ovis aries (sheep) |
In other species: dog , domestic cat , horse , pig , raccoon dog
Categories: Chromosomal disorder
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 136540 (trait) , 616109 (gene) , 136570 (trait) , 136580 (trait) , 136590 (trait) , 601464 (gene) , 136620 (trait) , 136640 (trait) , 601153 (gene) , 136660 (trait) , 600651 (trait) , 601153 (gene)
Mendelian trait/disorder: yes
Disease-related: 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.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000392-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. DOI: 10.1007/s12041-008-0035-1. | |
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. |
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- Created by Frank Nicholas on 06 Sep 2005