Extensive phenotypic variation is a common feature among village chickens found throughout much of the developing world, and in traditional chicken breeds that have been artificially selected for traits such as plumage variety. We present here an assessment of traditional and village chicken populations, for fine mapping of Mendelian traits using genome-wide single-nucleotide polymorphism (SNP) genotyping while providing information on their genetic structure and diversity. Bayesian clustering analysis reveals two main genetic backgrounds in traditional breeds, Kenyan, Ethiopian and Chilean village chickens. Analysis of linkage disequilibrium (LD) reveals useful LD (r(2)0.3) in both traditional and village chickens at pairwise marker distances of ∼10 Kb; while haplotype block analysis indicates a median block size of 11-12 Kb. Association mapping yielded refined mapping intervals for duplex comb (Gga 2:38.55-38.89 Mb) and rose comb (Gga 7:18.41-22.09 Mb) phenotypes in traditional breeds. Combined mapping information from traditional breeds and Chilean village chicken allows the oocyan phenotype to be fine mapped to two small regions (Gga 1:67.25-67.28 Mb, Gga 1:67.28-67.32 Mb) totalling ∼75 Kb. Mapping the unmapped earlobe pigmentation phenotype supports previous findings that the trait is sex-linked and polygenic. A critical assessment of the number of SNPs required to map simple traits indicate that between 90 and 110K SNPs are required for full genome-wide analysis of haplotype block structure/ancestry, and for association mapping in both traditional and village chickens. Our results demonstrate the importance and uniqueness of phenotypic diversity and genetic structure of traditional chicken breeds for fine-scale mapping of Mendelian traits in the species, with village chicken populations providing further opportunities to enhance mapping resolutions.Heredity advance online publication, 7 March 2012; doi:10.1038/hdy.2012.9.

This study aimed to estimate the level of relatedness within Ankole cattle herds using autosomal microsatellite markers and to assess the accuracy of relationship assignment based on farmers' memory. Eight cattle populations (four from each of two counties in Mbarara district in Uganda) were studied. Cattle in each population shared varying degrees of relatedness (first-, second- and third-degree relatives and unrelated individuals). Only memory-based kinship assignments which farmers knew with some confidence were tested in this experiment. DNA isolated from the blood of a subsample of 304 animals was analysed using 19 microsatellite markers. Average within population relatedness coefficients ranged from 0.010 ± 0.005 (Nshaara) to 0.067 ± 0.004 (Tayebwa). An exclusion probability of 99.9% was observed for both sire-offspring and dam-offspring relationships using the entire panel of 19 markers. Confidence from likelihood tests performed on 292 dyads showed that first-degree relatives were more easily correctly assigned by farmers than second-degree ones (p < 0.01), which were also easier to assign than third-degree relatives (p < 0.01). Accuracy of kinship assignment by the farmers was 91.9% ± 5.0 for dam-offspring dyads, 85.5% ± 3.4 for sire-offspring dyads, 75.6% ± 12.3 for half-sib and 60.0% ± 5.0 for grand dam-grand offspring dyads. Herd size, number of dyads assigned and length of time spent by the herder with their cattle population did not correlate with error in memorizing relationships. However, herd size strongly correlated with number of dyads assigned by the herder (r = 0.967, p < 0.001). Overall, we conclude that memorized records of pastoralists can be used to trace relationships and for pedigree reconstruction within Ankole cattle populations, but with the awareness that herd size constrains the number of kinship assignments remembered by the farmer.

A genome-wide scan for quantitative trait loci (QTL) affecting gastrointestinal nematode resistance in sheep was completed using a double backcross population derived from Red Maasai and Dorper ewes bred to F(1) rams. This design provided an opportunity to map potentially unique genetic variation associated with a parasite-tolerant breed like Red Maasai, a breed developed to survive East African grazing conditions. Parasite indicator phenotypes (blood packed cell volume - PCV and faecal egg count - FEC) were collected on a weekly basis from 1064 lambs during a single 3-month post-weaning grazing challenge on infected pastures. The averages of last measurements for FEC (AVFEC) and PCV (AVPCV), along with decline in PCV from challenge start to end (PCVD), were used to select lambs (N = 371) for genotyping that represented the tails (10% threshold) of the phenotypic distributions. Marker genotypes for 172 microsatellite loci covering 25 of 26 autosomes (1560.7 cm) were scored and corrected by Genoprob prior to qxpak analysis that included Box-Cox transformed AVFEC and arcsine transformed PCV statistics. Significant QTL for AVFEC and AVPCV were detected on four chromosomes, and this included a novel AVFEC QTL on chromosome 6 that would have remained undetected without Box-Cox transformation methods. The most significant P-values for AVFEC, AVPCV and PCVD overlapped the same marker interval on chromosome 22, suggesting the potential for a single causative mutation, which remains unknown. In all cases, the favourable QTL allele was always contributed from Red Maasai, providing support for the idea that future marker-assisted selection for genetic improvement of production in East Africa will rely on markers in linkage disequilibrium with these QTL.

The criteria for identification, selection and kinship assignment of Ankole cattle and their roles to pastoralists were studied on 248 farms in Kiboga, Mbarara, Mpigi and Sembabule districts of Uganda using a questionnaire, administered during one-to-one interviews. Farms were randomly sampled along transects originating from the headquarters of each of the 19 sub-counties studied. We found that male Ankole cattle are reared for income from sales, meat for home use and ceremonies, aesthetic value and to maintain cultural heritage. Female cattle are mainly kept for milk production, income from sales, heritage and aesthetics, and in few cases, for home use as meat. Other functions included savings, manure and butter production. All cattle are named at birth with coat colour or pattern being the main identification criterion; hence, it is also useful in assigning kinship. Selection criteria for males are more stringent than for females. On most farms, all females are kept for further breeding and are only culled in cases of poor reproductive health. Primary emphasis in selecting males is on the performance of ancestors in milk and reproductive traits, and then on the qualities of the bull itself. Bulls are selected mainly focusing on a big body frame and size, horns that are white, large and curved upward and a plain dark red "ruhogo" coat colour. The results of this study show that pastoralists have a rich body of indigenous knowledge on this breed, and this should effectively be incorporated into planned selective improvement schemes of the Ankole cattle breed.

Animal trypanosomosis in sub-Saharan Africa is a major obstacle to livestock based agriculture. Control relies on drugs with increasing incidence of multiple-drug resistance. A previous mapping experiment in an F2 population derived from the indigenous trypanotolerant N'Dama cattle crossed to susceptible (Kenya)-Boran cattle under controlled challenge, uncovered a number of trypanotolerance QTL (T-QTL). The present study was to determine expression of N'Dama trypanotolerance in a backcross to the Boran under conditions of field challenge, and whether chromosomal regions associated with trypanotolerance in the F2 experiment showed similar effects in the BC population. 192 backcross animals to the Boran were produced in six batches from June 2001 to December 2006. At one year of age animals were moved to the field and exposed to natural challenge over about one year in Southwest Kenya (Narok). The animals were individually recorded weekly for body weight, packed cell volume, parasitaemia score, and drug treatments, and were genotyped using 35 microsatellite markers spanning 5 chromosomes found in the F2 study to harbour T-QTL. The F1 were most trypanotolerant, Boran least, and BC intermediate. Females showed distinctly higher trypanotolerance than males. There was a positive correlation in the BC population between trypanotolerance and number of N'Dama origin marker alleles. QTL mapping revealed T-QTL distributed among all five targeted chromosomes, corresponding in part to the results obtained in the F2 experiment. N'Dama origin trypanotolerance is expressed in a BC population under field conditions in proportion to N'Dama origin marker alleles. Consequently, marker assisted selection in such populations may be a means of increasing trypanotolerance, while retaining the desirable productive qualities of the recurrent parent.

African bovine trypanosomiasis caused by Trypanosoma sp., is a major constraint on cattle productivity in sub-Saharan Africa. Some African Bos taurus breeds are highly tolerant of infection, but the potentially more productive Bos indicus zebu breeds are much more susceptible. Zebu cattle are well adapted for plowing and haulage, and increasing their tolerance of trypanosomiasis could have a major impact on crop cultivation as well as dairy and beef production. We used three strategies to obtain short lists of candidate genes within QTL that were previously shown to regulate response to infection. We analyzed the transcriptomes of trypanotolerant N'Dama and susceptible Boran cattle after infection with Trypanosoma congolense. We sequenced EST libraries from these two breeds to identify polymorphisms that might underlie previously identified quantitative trait loci (QTL), and we assessed QTL regions and candidate loci for evidence of selective sweeps. The scan of the EST sequences identified a previously undescribed polymorphism in ARHGAP15 in the Bta2 trypanotolerance QTL. The polymorphism affects gene function in vitro and could contribute to the observed differences in expression of the MAPK pathway in vivo. The expression data showed that TLR and MAPK pathways responded to infection, and the former contained TICAM1, which is within a QTL on Bta7. Genetic analyses showed that selective sweeps had occurred at TICAM1 and ARHGAP15 loci in African taurine cattle, making them strong candidates for the genes underlying the QTL. Candidate QTL genes were identified in other QTL by their expression profile and the pathways in which they participate.

Effective population size is an important parameter for the assessment of genetic diversity within a livestock population and its development over time. If pedigree information is not available, linkage disequilibrium (LD) analysis might offer an alternative perspective for the estimation of effective population size. In this study, 128 individuals of the Swiss Eringer breed were genotyped using the Illumina BovineSNP50 beadchip. We set bin size at 50 kb for LD analysis, assuming that LD for proximal single nucleotide polymorphism (SNP)-pairs reflects distant breeding history while LD from distal SNP-pairs would reflect near history. Recombination rates varied among different regions of the genome. The use of physical distances as an approximation of genetic distances (e.g. setting 1 Mb = 0.01 Morgan) led to an upward bias in LD-based estimates of effective population size for generations beyond 50, while estimates for recent history were unaffected. Correction for restricted sample size did not substantially affect these results. LD-based actual effective population size was estimated in the range of 87-149, whereas pedigree-based effective population size resulted in 321 individuals. For conservation purposes, requiring knowledge of recent history (<50 generations), approximation assuming constant recombination rate seemed adequate.

Genotype data from eight microsatellite markers were used to assess genetic diversity and relationships among five indigenous Bhutanese sheep populations, Sakten, Jakar, Sarpang, Sipsu and Tsirang. Estimates of mean observed and expected heterozygosities, mean number of alleles per locus/population were obtained. The highest observed heterozygosities were found in Jakar (0.657) and Sakten (0.647), while the lowest one was found in Tsirang (0.539). Genetic distances, pairwise proportion of different alleles, UPGMA tree, and principal component analysis indicate close relationship among Tsirang, Sipsu and Sarpang populations, while Jakar and Sakten populations are located in one cluster. These two clusters are separated geographically, and show distinct phenotypic as well as molecular characters. We therefore recommend that the Bhutanese native sheep populations be classified into at least two distinct breeds, Jakar-Sakten sheep and Sipsu sheep. Since Jakar and Sakten sheep have different morphological phenotypes, further analyses will be required to understand the genetic differences between these two sheep populations.

Summary In this study, we assessed the maternal origin of six Hungarian indigenous chicken breeds using mitochondrial DNA information. Sequences of Hungarian chickens were compared with the D-loop chicken sequences annotated in the GenBank and to nine previously described reference haplotypes representing the main haplogroups of chicken. The first 530 bases of the D-loop region were sequenced in 74 chickens of nine populations. Eleven haplotypes (HIC1-HIC11) were observed from 17 variable sites. Three sequences (HIC3, HIC8 and HIC9) of our chickens were found as unique to Hungary when searched against the NCBI GenBank database. Hungarian domestic chicken mtDNA sequences could be assigned into three clades and probably two maternal lineages. Results indicated that 86% of the Hungarian haplotypes are related to the reference sequence that likely originated from the Indian subcontinent, while the minor part of our sequences presumably derive from South East Asia, China and Japan.