Validation of single nucleotide polymorphisms associated with milk production traits in dairy cattle.

Single nucleotide polymorphism (SNP) associations with milk production traits found to be significant in different screening experiments, including SNP in genes hypothesized to be in gene pathways affecting milk production, were tested in a validation population to confirm their association. In total, 423 SNP were genotyped across 411 Holstein bulls, and their association with 6 milk production traits--Australian Selection Index (indicating the profitability of an animal's milk production), protein, fat, and milk yields, and protein and fat composition--were tested using single SNP regressions. Seventy-two SNP were significantly associated with one or more of the traits; their effects were in the same direction as in the screening experiment and therefore their association was considered validated. An over-representation of SNP (43 of the 423) on chromosome 20 was observed, including a SNP in the growth hormone receptor gene previously published as having an association with protein composition and protein and milk yields. The association with protein composition was confirmed in this experiment, but not the association with protein and milk yields. A multiple SNP regression analysis for all SNP on chromosome 20 was performed for all 6 traits, which revealed that this mutation was not significantly associated with any of the milk production traits and that at least 2 other quantitative trait loci were present on chromosome 20.

Variable stocking effect and endemic population genetic structure in Murray cod Maccullochella peelii.

Microsatellite markers were utilized to examine the genetic structure of Murray cod Maccullochella peelii throughout its distribution in the Murray--Darling Basin (MDB) of eastern Australia, and to assess the genetic effects of over three decades of stocking hatchery-reared fingerlings. Bayesian analysis using the programme Structure indicated that the species is largely genetically panmictic throughout much of its extensive range, most probably due to the high level of connectivity between catchments. Three catchments with terminal wetlands (the Lachlan, Macquarie and Gwydir), however, contained genetically distinct populations. No stocking effects were detected in the catchments that were genetically panmictic (either because of low genetic power or lack of effects), but the genetically differentiated Gwydir and Macquarie catchment populations were clearly affected by stocking. Conversely, there was no genetic evidence for survival and reproduction of stocked fish in the Lachlan catchment. Therefore, stocking of M. peelii throughout the MDB has resulted in a range of genetic effects ranging from minimal detectable effect, to substantial change in wild population genetic structure.

Power of a genome scan to detect and locate quantitative trait loci in cattle using dense single nucleotide polymorphisms.

There is increasing use of dense single nucleotide polymorphisms (SNPs) for whole-genome association studies (WGAS) in livestock to map and identify quantitative trait loci (QTL). These studies rely on linkage disequilibrium (LD) to detect an association between SNP genotypes and phenotypes. The power and precision of these WGAS are unknown, and will depend on the extent of LD in the experimental population. One complication for WGAS in livestock populations is that they typically consist of many paternal half-sib families, and in some cases full-sib families; unless this subtle population stratification is accounted for, many spurious associations may be reported. Our aim was to investigate the power, precision and false discovery rates of WGAS for QTL discovery, with a commercial SNP array, given existing patterns of LD in cattle. We also tested the efficiency of selective genotyping animals. A total of 365 cattle were genotyped for 9232 SNPs. We simulated a QTL effect as well as polygenic and environmental effects for all animals. One QTL was simulated on a randomly chosen SNP and accounted for 5%, 10% or 18% of the total variance. The power to detect a moderate-sized additive QTL (5% of the phenotypic variance) with 365 animals genotyped was 37% (p < 0.001). Most importantly, if pedigree structure was not accounted for, the number of false positives significantly increased above those expected by chance alone. Selective genotyping also resulted in a significant increase in false positives, even when pedigree structure was accounted for.

Field performance of transgenic potato plants compared with controls regenerated from tuber discs and shoot cuttings.

The objective of this study was to separate and determine effects on the field performance of transgenic potatoes that originate from the tissue culture process of transformation and from the genes inserted. The constructs introduced contained the reporter gene for betaglucuronidase (GUS) under the control of the patatin promoter (four different constructs) and the neomycin phosphotransferase gene under the control of the nopaline synthase promoter. Both genes might be expected to have a neutral effect on plant phenotype. The field performance of transgenic plants (70 independent transformants) was compared with non-transgenic plants regenerated from tuber discs by adventitious shoot formation and from shoot cultures established from tuber nodal cuttings. Plants from all three treatments were grown in a field trial from previously field-grown tubers, and plant performance was measured in terms of plant height at flowering, weight of tubers, number of tubers, weight of large tubers and number of large tubers. There was evidence of somaclonal variation among the transgenic plants; mean values for all characters were significantly lower and variances generally higher than from plants derived from nodal shoot cultures. A similar change in means and variances was observed for the non-transgenic tuber-disc regenerants when compared with shoot culture plants. Plant height, tuber weight and tuber number were, however, significantly lower in transgenic plants than in tuber-disc regenerants, suggesting an effect on plant performance either of the tissue culture process used for transformation or of the genes inserted. There were significant differences between constructs for all five plant characters. The construct with the smallest segment of patatin promoter and the lowest level of tuber specificity for GUS expression had the lowest values for all five characters. It is proposed that the nature of GUS expression is influencing plant performance. There was no indication that the NPTII gene, used widely in plant transformation, has any substantial effect on plant performance in the field.

Gene flow on the ice: genetic differentiation among Adélie penguin colonies around Antarctica.

Each summer Adélie penguins breed in large disjunct colonies on ice-free areas around the Antarctic continent. Comprising > 10 million birds, this species represents a dominant feature of the Antarctic ecosystem. The patchy distribution within a large geographical range, natal philopatry and a probable history of refugia, suggest that this species is likely to exhibit significant genetic differentiation within and among colonies. We present data from seven microsatellite DNA loci for 442 individuals from 13 locations around the Antarctic continent. With the exception of one locus, there was no significant genic or genotypic heterogeneity across populations. Pairwise FST values were low with no value > 0.02. When all colonies were compared in a single analysis, the overall FST value was 0.0007. Moreover, assignment tests were relatively ineffective at correctly placing individuals into their respective collection sites. These data reveal a lack of genetic differentiation between Adélie penguin colonies around the Antarctic continent, despite substantial levels of genetic variation. We consider this homogeneity in terms of the dispersal of individuals among colonies and the size of breeding groups and discuss our results in terms of the glacial history of Antarctica.