Total body fat mass (TBFM) and total body lean mass (TBLM) are the major components of the human body. Although these highly correlated phenotypic traits are frequently used to characterize obesity, the specific shared genetic factors that influence both traits remain largely unknown. Our study was aimed at identifying common quantitative trait loci (QTLs) contributing to both TBFM and TBLM. We performed a whole genome-linkage scan study in a large sample of 3255 subjects from 420 Caucasian pedigrees. Bivariate linkage analysis was carried out in both the entire sample and gender-specific subsamples. Several potentially important genomic regions that may harbour QTLs important for TBFM and TBLM were identified. For example, 20p12-11 achieved a LOD score of 2·04 in the entire sample and, in the male subsample, two genomic regions, 20p12 (LOD=2·08) and 3p26-25 (LOD=1·92), showed suggestive linkage. In addition, two-point linkage analyses for chromosome X showed suggestive linkages on Xp22 in the entire sample (LOD=2·14) and significant linkage on Xp22 in the female subsample (LOD=3·05). Complete pleiotropy was suggested for 20p12 and 3p26-25 in males. Our results suggest that QTLs on chromosomes 20p12, 3p26-25 and Xp22 may jointly influence TBFM and TBLM. Further fine mapping and gene identification studies for these pleiotropic effects are needed.

In order to detect the molecular mechanism of heterosis in pigs, an mRNA differential display (DD) technique was performed to investigate the differences in gene expression in the longissimus dorsi muscle tissues from Meishan, Meishan×Large White cross and Large White pigs. Fourteen expressed sequence tags (ESTs), differentially expressed between the hybrid and purebred pigs, were isolated and identified through semi-quantitative reverse transcriptase-polymerase chain reaction (RT-PCR). Nucleotide sequence analysis revealed that the 14 ESTs are not homologous to any of the known genes or ESTs. These novel ESTs were then deposited in the GenBank database. Tissue expression profile analysis showed that the ESTs were expressed in most tissues, including heart, spleen, liver, kidney, small intestine, ovary and lung, and this also implied that these genes must be important for the life process. Our results indicate the diversity of differential display of genes between the hybrids and purebreds in the Meishan×Large White cross combination. Results also suggest that heterosis in pigs might be derived from the differential expression of many indispensable genes in specific life phases.

The molecular genetic characteristics were evaluated, and the genetic effects of marker loci on heterosis of three traits (birth weight, BWT; average daily gain, ADG; and feed and meat ratio, FMR) were analysed in the experimental pig populations: Yorkshire (Y, n=34), Landrace (L, n=46) and Meishan (M, n=55); Yorkshire×Landrace (YL, n=32) and its reciprocal (LY, n=36), Yorkshire×Meishan (YM, n=82) and its reciprocal (MY, n=47), by 39 microsatellite markers selected from pig chromosomes SSC4, 6, 7, 8 and 13. The results indicated that observed alleles ranged from 2 to 6, average 4.13, observed heterozygosity varied from 0.39 (Y) to 0.58 (YM+MY) and average polymorphism information content (PIC) varied from 0.33 (Y) to 0.5 (YM). There were two loci (sw2155 and sw1037) at which the alleles were fixed in Y and L, and there were three loci (sw2409, sw2454 and sw1691) at which the alleles were fixed in M. The results from heterozygosity and kinship analysis revealed an intrinsic genetic relationship among the seven populations. Furthermore, the results on genetic effect analysis indicate that several marker loci had a significant effect on heterosis of the three traits in the two different F1 crossbred populations (P⩽0.01), for example s0161, swr1130 and sw1856 for BWT, sw1856 and swr2036 for ADG, and sw1302 and swr2036 for FMR. The significant marker loci implied a deep genetic relationship between molecular marker loci and heterosis.

To increase our understanding of the relationships of trunk fat mass (FMtrunk) and four anthropometric indices in Chinese males, 1090 males aged 20–40 years were randomly recruited from the city of Changsha, China. Waist circumference (WC) and hip circumference (HC) were measured using standardized equipment, and three other anthropometric indices of BMI, waist:hip ratio (WHR) and conicity index (CoI) were calculated using weight, height, HC and WC. FMtrunk (in kg) was measured using a Hologic QDR 4500 W dual-energy X-ray absorptiometry scanner. There was an increasing trend of FMtrunk, %FMtrunk (percentage of FMtrunk) and BMI, WC, WHR, CoI in successively older age groups (e.g. the mean FMtrunk values were 4·63 (sd 2·58), 5·39 (sd 2·74), 5·93 (sd 2·82), 6·57 (sd 2·94) in four 5-year age groups, respectively). FMtrunk and %FMtrunk were significantly correlated with four anthropometric indices with the Pearson's correlation coefficients ranging from 0·25 to 0·86. Principal component analysis was performed to form three principal components that interpreted over 99·5% of the total variation of four related anthropometric indices in all age groups, with over 65% of the total variation accounted by principal component 1. Multiple regression analyses showed that three principal components explained a greater variance (R2 70·0–80·1%) in FMtrunk than did BMI or WC alone (R2 57·8–74·1%). The present results suggest that there is an increasing trend of FMtrunk and four anthropometric indices in successively older age groups; that age has important effects on the relationships of FMtrunk and studied anthropometric indices; and that the accuracy of predicting FMtrunk using four anthropometric indices is higher than using BMI or WC alone.

In order to reveal the molecular basis of heterosis, Large White (LW), an introduced European pig breed, and Meishan (MS), a Chinese indigenous pig breed, were selected to hybridize directly and reciprocally in the present experiment. mRNA differential display (DD) technique was performed to identify genes that were differentially expressed in the backfat tissues of hybrids (LW×MS, MS×LW) and purebred (LW×LW, MS×MS) pigs. The ten anchor primers in combination with ten arbitrary primers (100 sets in total) were used and nearly 1500 reproducible bands were observed in polyacrylamide gels. The 40 differentially displayed bands were selected for cloning and sequencing. Thirty-six out of 40 expressed sequence tags (ESTs) proved to be novel and the sequences were submitted to GenBank (accession No. CV507051-CV507087); the other four showed similarity to known genes published in GenBank. Three among 36 novel ESTs were chosen for further identification with semi-quantitative reverse transcriptase polymerase chain reaction (RT-PCR). The result showed that two ESTs were differentially expressed, and the third showed no obvious difference between hybrids and purebreds. In order to reduce the percentage of false-positive DD, RNA pools of four types of pigs were constructed, by mixing samples from six pigs of the same genotype, and subjected to DD. Stringent annealing temperature was applied and only bands that could be repeated in duplicate PCR were used for further study. The results showed that the expression pattern of these 36 ESTs differed among the four genotypes of pigs, suggesting that the genes corresponding to these differentially expressed ESTs might be related to the heterosis occurring in fat tissue.