Summary Three informative pig F2 families based on European Wild Boar (W), Meishan (M) and Pietrain (P) crosses have been used for genome‐wide linkage and quantitative trait loci (QTL) analysis. Altogether 129 microsatellites, 56 type I loci and 46 trait definitions (specific to growth, fattening, fat deposition, muscling, meat quality, stress resistance and body conformation) were included in the study. In the linkage maps of M × P, W × P and W × M families, average spacing of markers were 18.4, 19.7 and 18.8 cM, the numbers of informative meioses were 582, 534 and 625, and the total lengths of autosomes measured were 27.3, 26.0 and 26.2 Morgan units, respectively. Maternal maps were on average 1.3 times longer than paternal maps. QTLs contributing more than 3% of F2 phenotypic variance could be identified at p < 0.05 chromosome‐wide level. Differences in the numbers and positions of QTLs were observed between families. Genome‐wide significant QTL effects were mapped for growth and fattening traits on eight chromosomes (1, 2, 4, 13, 14, 17, 18 and X), for fat deposition traits on seven chromosomes (1, 2, 3, 4, 6, 7 and X), for muscling traits on 11 chromosomes (1, 2, 3, 4, 6, 7, 8, 12, 14, 15 and X), for meat quality and stress resistance traits on seven chromosomes (2, 3, 6, 13, 16, 18 and X), and QTLs for body‐conformation traits were detected on 14 chromosomes. Closely correlated traits showed similar QTL profiles within families. Major QTL effects for meat quality and stress resistance traits were found on SSC6 in the interval RYR1‐A1BG in the W × P and M × P families, and could be attributed to segregation of the RYR1 allele T derived from Pietrain, whereas no effect in the corresponding SSC6 interval was found in family W × M, where Wild Boar and Meishan both contributed the RYR1 allele C. QTL positions were mostly similar in two of the three families for body conformation traits and for growth, fattening, fat deposition and muscling traits, especially on SSC4 (interval SW1073‐NGFB). QTLs with large effects were also mapped on SSC7 in the major histocompatibility complex (MHC) (interval CYP21A2‐S0102) and affected body length, weight of head and many other traits. The identification of DNA variants in genes causative for the QTLs requires further fine mapping of QTL intervals and a positional cloning. However, for these subsequent steps, the genome‐wide QTL mapping in F2 families represents an essential starting point and is therefore significant for animal breeding.

This study characterized autochthonous pig breeds of Vietnam and compared them with breeds from other regions. A total of 343 animals were considered from 5 indigenous pig breeds of Vietnam (Muong Khuong, Co, Meo, Tap Na, and Mong Cai), 2 exotic breeds kept in Vietnam (Landrace and Yorkshire), 3 European commercial breeds (German Land-race, Piétrain, and Large White), the Chinese breed Meishan, and the European Wild Boar. Each individual was genotyped for 20 selected polymorphic microsatellite loci. The Vietnamese autochthonous breeds showed higher degrees of polymorphism, allelic diversity, and heterozygosity than the other pig breeds. Also, large genetic diversity was observed across the area of distribution, with village-specific subpopulations, which led to significant inbreeding coefficients. As expected, genetic distances showed large differences among European-based, Chinese, and Vietnamese indigenous breeds and reflected the geographical distribution of breeds. In comparison with the European breeds, the Vietnamese indigenous pig breeds harbored a considerable amount of genetic diversity and, therefore, will be of significance for livestock bioconservation.

Summary Linkage maps of Sus scrofa chromosome 4 (SSC4) based on 19 markers were similar in lengths for three F2‐families [Wild Boar (W), Meishan (M) and Pietrain (P) crosses] and in agreement with the previously published maps. Quantitative trait loci (QTLs) on SSC4 affect mainly muscle and fat mass. Compared with others, Pietrain alleles were associated with longer carcass, higher body weight and higher meat content. In all three families, the profiles of F ratio values for these traits showed peaks close to the positions of candidate genes V‐ATPase, ATP1A2 and ATP1B1. Additional more proximally mapped QTLs, significant at the p < 0.05 chromosome‐wide level, were found in the M × P and W × P families. The W × M family revealed highly significant QTLs located in the vicinity of AMPD1 and NGFB. The SSC4 QTLs explained up to 12% of F2 phenotypic variance.

BackgroundMental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they do not present with clinically recognisable features. This makes it difficult to determine the molecular cause of this disorder on the basis of the phenotype alone. Mutations in KDM5C (previously named SMCX or JARID1C), a gene that encodes a transcriptional regulator with histone demethylase activity specific for dimethylated and trimethylated H3K4, are a comparatively frequent cause of non-syndromic X-linked mental retardation (NS-XLMR). Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated.ResultsBy whole-mount in situ hybridisation we showed that the mouse homologue of KDM5C is expressed in multiple tissues during mouse development.We present the results of gene expression profiling performed on lymphoblastoid cell lines as well as blood from patients with mutations in KDM5C. Using whole genome expression arrays and quantitative reverse transcriptase polymerase chain reaction (QRT-PCR) experiments, we identified several genes, including CMKOR1, KDM5B and KIAA0469 that were consistently deregulated in both tissues.ConclusionsOur findings shed light on the pathological mechanisms underlying mental retardation and have implications for future diagnostics of this heterogeneous disorder.

Summary Sus scrofa chromosome 2 (SSC2) linkage maps were generated from three F2 families involving Meishan (M), Pietrain (P) and Wild Boar (W) crosses and the same 10 marker loci. SSC2 linkage maps were similar between families and correspond to published maps. Quantitative trait loci (QTLs) for carcass traits, daily gain and heart weight were identified on SSC2, especially in the intervals 0–20 and 80–90 cM in the M × P family, the intervals 20–50 and 125–140 cM in the W × P family, and the interval 15–70 cM in the W × M family. QTL presence and position varied among families. QTL effects explained up to 10% of F2 phenotypic variance. Pietrain QTL alleles were associated with high muscle and heart mass, high daily gain and low fat deposition and Meishan alleles with high carcass fat content. Wild Boar alleles were associated with leaner carcass but lower daily gain than Meishan alleles.