Localization of a novel melanoma susceptibility locus to 1p22

Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which CDKN2A and CDK4 involvement has been excluded. The highest two-point parametric LOD score (1.82; recombination fraction [theta] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (theta = 0) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores 13 in this subset, with the highest parametric LOD score, 4.95 (theta = 0) ( nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.

Control of familial and renal cardiac diseases in English bull terriers: How to repair a damaged breed?

Control recommendations are presented for four genetic or familial diseases that cause significant morbidity and mortality in affected English Bull Terriers. Bull Terrier polycystic kidney disease is an autosomal dominant disease diagnosed by detecting a minimum of three renal cysts, with cysts present in both kidneys, and similarly affected family members to confirm the inherited nature of the cysts. Bull Terrier hereditary nephritis is an autosomal dominant disease diagnosed in otherwise normal animals with urinary protein: creatinine ratios persistently >0.3 and no significant urinary sediment, a family history of the disease, and characteristic glomerular basement membrane lesions. Mitral valve myxomatous degeneration and left ventricular outflow tract obstruction in Bull Terriers are familial diseases diagnosed by auscultating characteristic murmurs in affected animals. Excluding animals with these clinical signs from the breeding pool will reduce the prevalence rates of these diseases, however maintenance of an effective population size is also important. Providing breeders with information on genetics, including the risks associated with inbreeding and the benefits of outcrossing, is likely to improve canine breeding practices, thus increasing fitness and fecundity of these purebred dogs.

Climate change and biotic invasions: a case history of a tropical woody vine

The impacts of climate change in the potential distribution and relative abundance of a C3 shrubby vine, Cryptostegia grandiflora, were investigated using the CLIMEX modelling package. Based upon its current naturalised distribution, C. grandiflora appears to occupy only a small fraction of its potential distribution in Australia under current climatic conditions; mostly in apparently sub-optimal habitat. The potential distribution of C. grandiflora is sensitive towards changes in climate and atmospheric chemistry in the expected range of this century, particularly those that result in increased temperature and water use efficiency. Climate change is likely to increase the potential distribution and abundance of the plant, further increasing the area at risk of invasion, and threatening the viability of current control strategies markedly. By identifying areas at risk of invasion, and vulnerabilities of control strategies, this analysis demonstrates the utility of climate models for providing information suitable to help formulate large-scale, long-term strategic plans for controlling biotic invasions. The effects of climate change upon the potential distribution of C. grandiflora are sufficiently great that strategic control plans for biotic invasions should routinely include their consideration. Whilst the effect of climate change upon the efficacy of introduced biological control agents remain unknown, their possible effect in the potential distribution of C. grandiflora will likely depend not only upon their effects on the population dynamics of C. grandiflora, but also on the gradient of climatic suitability adjacent to each segment of the range boundary.