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Background: Polled intersex syndrome (PIS) leads to reproductive disorders in goats and exerts a heavy influence on goat breeding. Since 2001, the core variant of an 11.7 kb deletion at ~129 Mb on chromosome 1 (CHI1) has been widely used as a genetic diagnostic criterion. In 2020, a ~0.48 Mb insertion within the PIS deletion was identified by sequencing in XX intersex goats. However, the suitability of this variation for the diagnosis of intersex goats worldwide and its further molecular genetic mechanism need to be clarified. Results: The whole-genome selective sweep of intersex goats from China was performed with whole-genome next-generation sequencing technology for large sample populations and a case–control study on interbreeds. A series of candidate genes related to the goat intersexuality phenotype were found. We further confirmed that a ~0.48 Mb duplicated fragment (including ERG and KCNJ15) downstream of the ~20 Mb PIS region was reversely inserted into the PIS locus in intersex Chinese goats and was consistent with that in European Saanen and Valais black-necked goats. High-throughput chromosome conformation capture (Hi-C) technology was then used to compare the 3D structures of the PIS variant neighborhood in CHI1 between intersex and non-intersex goats. A newly found structure was validated as an intrachromosomal rearrangement. This inserted duplication changed the original spatial structure of goat CHI1 and caused the appearance of several specific loop structures in the adjacent ~20 kb downstream region of FOXL2. Conclusions: Results suggested that the novel complex PIS variant genome was sufficient as a broad-spectrum clinical diagnostic marker of XX intersexuality in goats from Europe and China. A series of private dense loop structures caused by segment insertion into the PIS deletion might affect the expression of FOXL2 or other neighboring novel candidate genes. However, these structures require further in-depth molecular biological experimental verification. In general, this study provided new insights for future research on the molecular genetic mechanism underlying female-to-male sex reversal in goats. [ABSTRACT FROM AUTHOR]

Background: To assess the genetic diversity of seven Yunnan indigenous goat populations (Fengqing hornless goat, Mile red‐bone goat, Longling goat, Ninglang black goat, Black‐bone goat, Yunling black goat, and Zhaotong goat), their population structures were investigated using 20 microsatellite markers. Results: The results indicated that the genetic diversity of these goats was rich. The observed heterozygosity ranged from 0.4667 ± 0.0243 to 0.5793 ± 0.0230, and the mean number of alleles ranged from 4.80 ± 1.61 and 4.80 ± 1.64 to 6.20 ± 2.93. The population structure analysis showed that these seven goat populations were separated into two clusters, consistent with the results from phylogenetic networks, pairwise differences, and STRUCTURE analyses. We speculate that this may have been caused by natural geographical isolation, human migration and economic and cultural exchanges. We suggest removing CSRD247 and ILSTS005, two loci identified to be under positive selection in the present study, from the microsatellite evaluation system of goats. Conclusions: The present study may provide a scientific basis for the conservation and utilization of Yunnan indigenous goats. [ABSTRACT FROM AUTHOR]

Litter size is considered to be the most important index for estimating domestic animal productivity. The number of indigenous goats in China with higher litter sizes than those of commercial breeds in other countries may be helpful for accelerating genetic improvements in goat breeding. We performed a genome-wide selective sweep analysis of 31 Dazu black goats with extreme standard deviation in litter size within the third fetus to identify significant genomic regions and candidate genes through different analyses. The analysis identified a total of 33,917,703 variants, including 32,262,179 SNPs and 1,655,524 indels. In addition, two novel candidate genes (LRP1B and GLRB), which are related to litter size, were obtained with π, Tajima's D, πA/πB, and FST at the individual level with a 95% threshold for each parameter. These two genes were annotated in five GO terms (localization, binding, macromolecular complex, membrane part, and membrane) and two pathways (long-term depression and neuroactive ligand-receptor interaction pathway). Regarding the result of linkage disequilibrium (LD) analysis, in LRP1B and GRID2, the high-yield Dazu black goats exhibit significantly different LD patterns from low-yield goats. Litter size variability has low heritability and is related to multiple complex factors found in domestic animals. Obtaining a clear explanation and significant signal by genome-wide selective sweep analysis with a small sample size is difficult. However, we investigated some candidate genes, particularly LRP1B and GLRB, which may provide useful information for further research. [ABSTRACT FROM AUTHOR]

China has numerous local domestic sheep breeds. In this study, the genetic diversity of eight sheep populations was estimated using 17 microsatellites. Knowledge of such diversity provides novel insight into the degree of breed protection needed and the prediction of hybrid advantage. In total, 17 microsatellites were genotyped in 186 individuals from eight populations. The mean number of alleles (± SD) ranged from 3.71 ± 1.36 in Zhaotong sheep to 11.94 ± 3.58 in small-tailed Han sheep. The observed heterozygote frequency (± SD) within a population ranged from 0.482 ± 0.025 in Zhaotong sheep to 0.664 ± 0.023 in Tibetan sheep. In addition, using pairwise difference (F ST ) analysis, the highest within-population diversity was observed in Tibetan sheep (πX = 12.8098) and small-tailed Han (πX = 12.67873), and the lowest diversity was observed in Zhaotong sheep (πX = 7.90337). The results for genetic divergence between populations indicated that the populations were significantly different (P < 0.05) based on the average number of pairwise differences between populations (πXY) and the corrected average pairwise differences. Both phylogenetic networks and structure analysis showed that these eight populations were separated into three clusters in accordance with their geographical habitat, except Tibetan and Hu sheep. In short, we genotyped eight local Chinese sheep populations using 17 microsatellites, and the results indicated that their current genetic diversity is decreasing and that new conservation strategies are needed. In addition, significant genetic differences between populations could be used in cross breeding.

Litter size is a favorable economic trait for the goat industry, but remains a complex trait controlled by multiple genes in multiple organs. Several genes have been identified that may affect embryo survival, follicular development, and the health of fetuses during pregnancy. Jining Grey goats demonstrate the largest litter size among goat breeds indigenous to China. In order to better understand the genetic basis of this trait, six suppression subtractive hybridization (SSH) cDNA libraries were constructed using pooled mRNAs from hypothalamuses, pituitaries, and ovaries of sexually mature and adult polytocous Jining Grey goats, as testers, versus the pooled corresponding mRNAs of monotocous Liaoning Cashmere goats, as drivers. A total of 1,458 true-positive clones--including 955 known genes and 481 known and 22 unknown expressed sequence tags--were obtained from the SSH libraries by sequencing and alignment. The known genes were categorized into cellular processes and signaling information storage and processing, and metabolism. Three genes (FTH1, GH, and SAA) were selected to validate the SSH results by quantitative real-time PCR; all three were up-regulated in the corresponding tissues in the tester group indicating that these are candidate genes associated with the large litter size of Jining Grey goats. Several other identified genes may affect embryo survival, follicular development, and health during pregnancy. This study provides insights into the mechanistic basis by which the caprine hypothalamic-pituitary-gonadal axis affects reproductive traits and provides a theoretical basis for goat production and breeding., (© 2015 Wiley Periodicals, Inc.)

Single nucleotide polymorphism in exon 1 of the estrogen receptor (ESR) gene was detected by PCR-SSCP in both high fecundity sheep breeds (Small Tail Han sheep, Hu sheep and German Mutton Merino sheep) and low fecundity sheep breeds (Dorset sheep,Suffolk sheep). Results indicated that there were three genotypes (AA, AB and BB) in all three high fecundity sheep breeds, but only two genotypes (AA, AB) in both low fecundity breeds. In Hu sheep,German Mutton Merino sheep, Small Tail Han sheep, Suffolk sheep and Dorset sheep,the frequency of allele A was 0.672, 0.786, 0.846, 0.857 and 0.867, respectively, and the frequency of allele B was 0.328, 0.214, 0.154, 0.143, and 0.133, respectively. Sequencing revealed a C-->G mutation at 363 bp of exon 1 of ESR gene in the BB genotype in comparison to the AA genotype. The genotype distribution was significantly different between Small Tail Han sheep and Hu sheep (P<0.01) and between Dorset sheep and Hu sheep (P <0.05). There was no difference in genotype distribution between other sheep breeds. The Small Tail Han sheep ewes with genotypes AB or BB had 0.51 (P < 0.05) and 0.7 (P < 0.05) more lambs than those with genotype AA, respectively. These results showed that the estrogen receptor locus is either a major gene that influences the prolificacy in Small Tail Han sheep or in close linkage with such a gene. In view of our results, marker-assisted selection using ESR is warranted to increase litter size in sheep and will be of considerable economic value to mutton producers.

Genetic variation of seven microsatellite loci BM1818, BM1258, BM1443, BM1905, BM302, BM4505 and CYP21 which were closely linked to somatic cell score (SCS) was analyzed in 240 Beijing Holstein cows with nondenaturing polyacrylamide gel electrophoresis. Allele frequencies, heterozygosity, polymorphic information content, the effective number of alleles of seven microsatellite loci were calculated. Relationships between seven microsatellite loci and somatic cell score in Beijing Holstein cows were primarily analyzed by least squares linear model. Least squares means of SCS for BM1818 (284 bp/284 bp), BM1258 (106 bp/92 bp), BM1443 (166 bp/160 bp), BM1905 (187 bp/187 bp), BM302 (142 bp/140 bp), BM4505 (240 bp/236 bp) and CYP21 (215 bp/198 bp) were relatively lower,and their genotypes were the most favorable genotypes in respective locus for mastitis resistance. Least squares means of SCS for BM1818 (286 bp/286 bp), BM1258 (102 bp/102 bp), BM1443 (170 bp/160 bp), BM1905 (197 bp/195 bp), BM302 (154 bp/145 bp), BM4505 (240 bp/238 bp) and CYP21 (204 bp/192 bp) were relatively higher,and their genotypes were the most unfavorable genotypes in respective locus for mastitis resistance. The information found in the present study would be very important for improving mastitis resistance in dairy cattle by marker assisted selection.

The genetic polymorphisms of four microsatellite loci BM143, OarHH35, OarAE101, and BMS2508 were analyzed in 286 sheep of seven sheep populations (Small Tail Han sheep, Hu sheep, Ujumqin sheep, Suffolk sheep, Dorset sheep, Charolais sheep, F1 of Dorset male x Small Tail Han female sheep). The numbers of alleles for BM143, OarHH35, OarAE101, and BMS2508 are 9, 11, 14 and 9 in seven sheep populations, respectively. The polymorphism information content/number of effective alleles/ heterozygosity of BM143, OarHH35, OarAE101 and BMS2508 were 0.7073/3.7231/0.7314, 0.8267/6.4399/0.8447, 0.5743/2.5178/0.6028, 0.6172/3.0712/0.6744 in 286 sheep, respectively. The results revealed the greatest genetic variation at OarHH35 locus and the lowest at OarAE101, the greatest genetic variation in Small Tail Han sheep and the lowest in Hu sheep among seven sheep populations. In the unweighted pair group method with arithmetic mean (UPGMA) dendrograms based on Nei's D(A) distance and Nei's D(S) standard genetic distance, the Chinese native breeds (Small Tail Han sheep, Ujumqin sheep, Hu sheep) were grouped together, then with Charolais sheep. The F1 crossbred sheep, and the two British native sheep (Suffolk sheep, Dorset sheep) also clustered together. Microsatellite genotyping in sheep provided a useful tool for examining the genetic relationships among breeds (populations).

The genetic variations of microsatellites in intron 2 of the porcine adipocyte fatty acid-binding protein (A-FABP) genes were investigated in 420 pigs including Wuzhishan pig, Yimeng black pig, Hanjiang black pig, Laiwu pig, Beijing black pig, Min pig, Chenghua pig, Neijiang pig, Erhualian pig, Bama xiang pig and Large White pig. The results suggested as follows: (i)PIC of the Wuzhishan pig breed is the highest (0.7904) and 11 alleles were detected. Compared with Large White pig,Chinese pig breeds showed a great polymorphism of A-FABP microsatellites except Beijing black pig in which only 2 alleles were detected. (ii) Only Min pig, Bama xiang pig, Beijing black pig and Large White pig were in Hardy-Weinberg equilibrium. (iii) The analysis of genetic differentiation showed that the average value of the A-FABP gene differentiation of 10 Chinese pigs is about 40.83%.