G6S Point Mutation in Nubian Goats
a neurodegenerative genetic disease
What is G6S?
G6S is the name of a specific gene found in Nubian goats and their hybrids. It is responsible for the production of N-acetylglucosamine-6-sulfatase (G6S), which is an enzyme that is involved in the catabolism of heparin sulfate. There is a single nucleotide polymorphism (SNP) that results in an inability to produce G6S, resulting in an accumulation of heparin sulfate in the affected animal's lysosomes, which in turn affects other enzymatic activity within the lysosomes. (pictured: SGCH Saada Bellfry's Lady Vampress, a nationally-ranked goat who may have been a carrier)
How is G6S inherited?
Progression of an animal (Running River Diversion) with G6S affected status
1 Day
4 months
2 years
why should we care about G6S?
Symptoms of G6S deficiency
How prevalent is this disease? Do we really need to worry about it?
Can we eliminate it?
Discussion Questions
References
FAQs on G6S diagnostic testing - Texas A&M Veterinary Medical Diagnostic Laboratory
Di Ferrante, N; Ginsberg, L C; Donnelly, P V; Di Ferrante, D T; Caskey, C T (1978)
Science (New York, N.Y.) vol. 199 (4324) p. 79-81
Clavijo, Alfonso; Sun, Feng; Sneed, Loyd(2010)
Journal of Veterinary Diagnostic Investigationvol. 22 (4) p. 622-627
2 J VET Diagn Invest 1998 10: 181 Margaret Z. Jones Heidi M. Hoard, Jeffrey R. Leipprandt, Kevin T. Cavanagh, Nancy K. Truscott, Beverly A. L. Levene, Karen H. Friderici and Determination of Genotypic Frequency of Caprine Mucopolysaccharidosis IIID
Image sources:
http://www.baa-sifarmz.com/ourg6s.htm
http://runningriverdairygoats.weebly.com/diversions-g6s-journey/archives/10-2013