Bovine mucopolysaccharidosis type IIIB

Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G>A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.

Identification of a mutation in the para-sodium channel gene of the cattle tick Rhipicephalus (Boophilus) microplus associated with resistance to synthetic pyrethroid acaricides

Resistance against synthetic pyrethroid (SP) products for the control of cattle ticks in Australia was detected in the field in 1984, within a very short time of commercial introduction. We have identified a mutation in the domain II S4-5 linker of the para-sodium channel that is associated with resistance to SPs in the cattle tick Rhipicephalus (Boophilus) microplus from Australia. The cytosine to adenine mutation at position 190 in the R. microplus sequence AF134216, results in an amino acid substitution from leucine in the susceptible strain to isoleucine in the resistant strain. A similar mutation has been shown to confer SP resistance in the whitefly, Bemisia tabaci, but has not been described previously in ticks. A diagnostic quantitative PCR assay has been developed using allele-specific Taqman® minor groove-binding (MGB) probes. Using the assay to screen field and laboratory populations of ticks showed that homozygote allelic frequencies correlated highly with the survival percentage at the discriminating concentration of cypermethrin.

Colour differentiation of high-lycopene tomato fruit through the addition of the colourless-epidermis (y) mutation

High-lycopene tomatoes (Solanum lycopersicum) are characterised by an intense red flesh-colour, due to an elevated concentration of the carotenoid, lycopene. However, this characteristic is only visible once fruit are cut open, making it impossible to differentiate intact high-lycopene fruit from standard tomato fruit, a clear market disadvantage. The reason that fruit colour of both high-lycopene and standard fruit looks almost identical from the outside is because tomato fruit normally contain the yellow flavonoid 'naringenin chalcone' in a thin layer of epidermal cells. It is this combination of naringenin chalcone and the underlying lycopene in the flesh that gives tomatoes their characteristic orange-red colour. By incorporation of the recessive colourless epidermis mutant allele 'y' (which prevents naringenin chalcone accumulation) into high-lycopene fruit, we have been able to create high-lycopene tomatoes (hp1.ogc.y) exhibiting a deep-pink colour visible from the outside. Hue angle of the skin of the high-lycopene 'y' mutant and a regular highlycopene tomato (hp1.ogc.Y) was 30 and 38°, respectively, while flesh values were similar at 31 and 32°, respectively. Removal of naringenin chalcone from the epidermis appeared to improve the visibility of underlying lycopene, such that fruit outer colour became a subsequent indicator of underlying flesh colour. The removal of epidermal pigmentation means that high-lycopene fruit can now be differentiated from standard tomato fruit in the market place without the need to cut fruit open.