We have previously shown that laboratory populations of the olive fruitfly Bactrocera oleae come to equilibrium with allele frequencies at the 6-phosphogluconate dehydrogenase (6-PGD) locus markedly different from those of wild populations. In this study, we present new evidence from perturbation experiments in support of the notion that the locus is under selective pressure under laboratory conditions. Eleven populations were started with frequencies at the 6-PGD locus different from the laboratory equilibrium. Over 12 generations, the populations showed a return to the previous equilibrium, indicating a direct and powerful selection pressure on the naturally occurring allozymes of this locus. That is, a marked increase of the F allele followed by a compensatory decrease of allele I. Populations were set up to minimize the effects of associative overdominance, and we discuss the possible influence of this factor. Nucleotide sequence for the 6-PGD F and I alleles revealed two missense mutations at positions 501 and 730 leading to different amino acids among the two alleles.

There is limited experimental information about the genetic basis of micro-environmental variance (VE) (developmental stability) and environmental correlations. This study, by using a population of maize recombinant inbred lines (RIL) and simple sequence repeat (SSR) polymorphic markers, aims at the following: firstly, to quantify the genetic component of the VE or developmental stability for four traits in maize and the environmental correlation between these traits, and secondly, to identify quantitative trait loci (QTLs) that influence these quantities. We found that, when estimating variances and correlations and testing their homogeneity, estimates and tests are needed that are not highly dependent on normality assumptions. There was significant variation among the RILs in VE and in the environmental correlation for some of the traits, implying genetic heterogeneity in the VE and environmental correlations. The genetic coefficient of variation of the environmental variance () was estimated to be 20%, which is lower than estimates obtained for other species. A few genomic regions involved in the stability of one trait or two traits were detected, and these did not have an important influence on the mean of the trait. One region that could be associated with the environmental correlations between traits was also detected.

Bacterial blight (BB) of rice caused by Xanthomonas oryzae pv oryzae (Xoo) is one of the major constraints to productivity in South-East Asia. The strategy of using major genes, singly or in combination, continues to be the most effective approach for BB management. Currently, more than two dozen genes have been designated but not all the known genes are effective against all the prevalent pathotypes. The challenge, therefore, is to continue to expand the gene pool of effective and potentially durable resistance genes. Wild species constitute an important reservoir of the resistance genes including BB. An accession of Oryza nivara (IRGC 81825) was found to be resistant to all the seven Xoo pathotypes prevalent in northern states of India. Inheritance and mapping of resistance in O. nivara was studied by using F2, BC2F2, BC3F1 and BC3F2 progenies of the cross involving Oryza sativa cv PR114 and the O. nivara acc. 81825 using the most virulent Xoo pathotype. Genetic analysis of the segregating progenies revealed that the BB resistance in O. nivara was conditioned by a single dominant gene. Bulked segregant analysis (BSA) of F2 population using 191 polymorphic SSR markers identified a ∼35 centiMorgans (cM) chromosomal region on 4L, bracketed by RM317 and RM562, to be associated with BB resistance. Screening of BC3F1 and BC2F2 progenies and their genotyping with more than 30 polymorphic SSR markers in the region, covering Bacterial artificial chromosome (BAC) clone OSJNBb0085C12, led to mapping of the resistance gene between the STS markers based on annotated genes LOC_Os04g53060 and LOC_Os04g53120, which is ∼38·4 kb. Since none of the known Xa genes, which are mapped on chromosome 4L, are effective against the Xoo pathotypes tested, the BB resistance gene identified and transferred from O. nivara is novel and is tentatively designated as Xa30(t). Homozygous resistant BC3F3 progenies with smallest introgression region have been identified.

Drosophila ananassae Doleschall is a cosmopolitan and domestic species. It occupies a unique status among Drosophila species due to certain peculiarities in its genetic behaviour and is of common occurrence in India. Quantitative genetics of sexual and non-sexual traits provided evidence for genetic control of these traits. D. ananassae exhibits high level of chromosomal polymorphism in its natural populations. Indian natural populations of D. ananassae show geographic differentiation of inversion polymorphism due to their adaptation to varying environments and natural selection operates to maintain three cosmopolitan inversions. Populations do not show divergence on temporal scale, an evidence for rigid polymorphism. D. ananassae populations show substantial degree of sub-structuring and exist as semi-isolated populations. Gene flow is low despite co-transportation with human goods. There is persistence of cosmopolitan inversions when populations are transferred to laboratory conditions, which suggests that heterotic buffering is associated with these inversions in D. ananassae. Populations collected from similar environmental conditions that initially show high degree of genetic similarity have diverged to different degrees in laboratory environment. This randomness could be due to genetic drift. Interracial hybridization does not lead to breakdown of heterosis associated with cosmopolitan inversions, which shows that there is lack of genetic co-adaptation in D. ananassae. Linkage disequilibrium between independent inversions in laboratory populations has often been observed, which is likely to be due to suppression of crossing-over and random genetic drift. No evidence for chromosomal interactions has been found in natural and laboratory populations of D. ananassae. This strengthens the previous suggestion that there is lack of genetic co-adaptation in D. ananassae.

Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes. This could lead to ‘faster-X evolution’, if a large proportion of mutations are fixed by positive selection, as suggested by recent studies in Drosophila. We used a multispecies approach to test this: Muller's element D, an autosomal arm, is fused to the ancestral X chromosome in Drosophila pseudoobscura and its sister species, Drosophila affinis. We tested whether the same set of genes had higher rates of non-synonymous evolution when they were X-linked (in the D. pseudoobscura/D. affinis comparison) than when they were autosomal (in Drosophila melanogaster/Drosophila yakuba). Although not significant, our results suggest this may be the case, but only for genes under particularly strong positive selection/weak purifying selection. They also suggest that genes that have become X-linked have higher levels of codon bias and slower synonymous site evolution, consistent with more effective selection on codon usage at X-linked sites.

Obesity and osteoporosis affect millions of Americans. While phenotypically, obesity is negatively correlated with fracture risk, research on a genetic basis for this relationship is lacking. We used males and females from 16 LGXSM recombinant inbred (RI) mouse strains to investigate the genetically mediated relationship between obesity and osteoporosis-related traits. First, heritabilities were estimated for (1) bone morphology properties determined by microCT (femoral and radial diaphyseal bone cross-sectional area and moments of inertia, as well as proximal tibial trabecular bone volume, connectivity density, structure model index, trabecular number, trabecular thickness and trabecular separation), (2) mechanical properties determined by bending tests (femoral and radial rigidity, yield moment, ultimate moment, fracture displacement and post-yield displacement), and (3) effective material properties (femoral and radial modulus of elasticity and ultimate tensile strength). All femoral (H2=43–74%) and tibial traits (H2=31–56%) were heritable; as were 8 of 10 radial traits (H2=21–33%). Eighteen significant genetic correlations were discovered between obesity- and osteoporosis-related phenotypes. Genetic correlations indicate that gene effects associated with increased fat mass and leptin levels are also associated with larger, stronger femora. Gene effects associated with larger, stronger radii and with denser tibiae were also associated with increased fat mass but not with leptin levels. Furthermore, quantitative trait loci (QTLs) previously reported for obesity and leptin levels also had effects on bone morphology, mechanical and material properties. Our results support the use of the LG/J-by-SM/J mouse intercross populations as models for normal, complex genetic variation in obesity, bone properties and their interrelationship.

To identify the disease-causing gene for a large multi-generational Chinese family affected by familial hypertrophic cardiomyopathy (FHCM), genome-wide screening was carried out in a Chinese family with FHCM using micro-satellite markers, and linkage analysis was performed using the MLINK program. The disease locus was mapped to 1q32 in this family. Screening for a mutation in the cardiac troponin T (cTnT) gene was performed by a PCR and sequencing was done with an ABI Prism 3700 sequencer. A novel C→G transition located in the ninth exon of the cTnT gene, leading to a predicted amino acid residue change from Ile to Met at codon 90, was identified in all individuals with hypertrophic cardiomyopathy (HCM). The results presented here strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of HCM in this family.