Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza

Selection for desirable traits and breed-specific phenotypes has left distinctive footprints in the genome of pigs. As representative of a breed with strong selective traces aiming for robustness, health and performance, the Mangalitza pig, a native curly-haired pig breed from Hungary, was investigated in this study. Whole genome sequencing and SNP chip genotyping was performed to detect runs of homozygosity (ROH) in Mangalitza and Mangalitza-crossbreeds. We identified breed specific ROH regions harboring genes associated with the development of the curly hair type and further characteristics of this breed. Further analysis of two matings of Mangalitza with straight-coated pig breeds confirmed an autosomal dominant inheritance of curly hair. Subsequent scanning of the genome for variant effects on this trait revealed two variants potentially affecting hair follicle development and differentiation. Validation in a large sample set as well as in imputed SNP data confirmed these variants to be Mangalitza-specific. Herein, we demonstrated how strong artificial selection has shaped the genome in Mangalitza pigs and left traces in the form of selection signatures. This knowledge on genomic variation promoting unique phenotypes like curly hair provides an important resource for futures studies unraveling genetic effects for special characteristics in livestock

Molecular cloning, expression analysis and assignment of the porcine tumor necrosis factor superfamily member 10 gene (TNFSF10) to SSC13q34 -> q36 by fluorescence in situ hybridization and radiation hybrid mapping

We have cloned the complete coding region of the porcine TNFSF10 gene. The porcine TNFSF10 cDNA has an ORF of 870 nucleotides and shares 85 % identity with human TNFSF10, and 75% and 72% identity with rat and mouse Tnfsf10 coding sequences, respectively. The deduced porcine TNFSF10 protein consists of 289 amino acids with the calculated molecular mass of 33.5 kDa and a predicted pI of 8.15. The amino acid sequence similarities correspond to 86, 72 and 70% when compared with human, rat and mouse sequences, respectively. Nor-them blot analysis detected TNFSF10-specific transcripts (similar to 1.7 kb) in various organs of a 10-week-old pig, suggesting ubiquitous expression. Real-time RT-PCR studies of various organs from fetal (days 73 and 98) and postnatal stages (two weeks, eight months) demonstrated developmental and tissue-specific regulation of TNFSF10 mRNA abundance. The chromosomal location of the porcine TNFSF10 gene was determined by FISH of a specific BAC clone to metaphase chromosomes. This TNFSF10 BAC clone has been assigned to SSC13q34 -> q36. Additionally, the localization of the TNFSF10 gene was verified by RH mapping on the porcine IMpRH panel. Copyright (c) 2005S. KargerAG, Basel

Calculation of a cow culling merit index including specific heterosis in a multibreed dairy population

Abstract. The objective of this study was to compare two models for the estimation of producing values (EPV) for lactation yields of milk, fat and protein, and calving interval (CI), which were combined in an index called the Cow Culling Merit Index (CMI), in Irish dairy cattle. Data comprised 188 927 records for production and 157 117 records for CI, collected on North American Holstein Friesian (HO), Friesian (FR), Jersey (JE), and Montbéliarde (MO) pure breeds, and some of their crosses. Cows calved from 2002 to 2006 and were from parities 1 to 5. Coefficients of specific heterosis for HO×FR, HO×JE, and HO×MO were calculated for each cow from parental breed information. The coefficient of general heterosis (GH) for each cow was obtained as the sum of the specific coefficients previously estimated. Model 1 included fixed effects of contemporary group, age at calving within parity, linear regression on gene proportions for FR, JE, and MO, and linear regression on the coefficient of expected GH. Additive genetic, permanent environmental, and error were random effects. Model 2 was based on Model 1 but GH was replaced by linear regressions on coefficients of expected specific heterosis for HO×FR, HO×JE, and HO×MO. Estimated producing values were calculated as the sum of estimated breeding value, permanent environmental and heterosis effects. The inclusion of coefficients of specific heterosis in the model did not produce re-ranking of animals but important differences in EPVs were observed in crossbred cows. These changes are important if EPVs are used to develop a culling merit index

Assignment of the <i>TYK2</i> gene to equine chromosome 7q12-q13 (Brief report)

Abstract. Tyrosine kinase 2 (TYK2) is a member of the janus kinase gene family and encodes an 1187 amino acid protein. All four members of the janus kinase family JAK1, JAK2, JAK3, and TYK2 associate with various cytokine receptors and mediate the signal transduction by tyrosine phosphorylation of downstream targets (YAMOAKA et al., 2004). Studies with tyk2 deficient mice demonstrated impairment of interferon α/β signaling (KARAGHIOSOFF et al., 2003). Mutations in the murine tyk2 gene are associated with increased susceptibility to infectious and autoimmune diseases (SHAW et al., 2003). The human TYK2 gene consists of 25 exons spanning 30,003 bp on human chromosome 19p13.2 starting at 10,322,209 bp. The objective of this study was to determine the chromosomal location of TYK2 in the horse by FISH and RH mapping. </jats:p

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.

Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the missense mutation g.85716041G&gt;A (ss2019497443, rs1114816375) within the EDA gene with all three cases following an X-linked recessive inheritance, but normal EDAR and EDARADD. This mutation causes an exchange of glycine (G) with arginine (R) at amino acid position 227 (p.227G&gt;R) in the second collagen triple helix repeat domain of EDA. The EDA variant was associated with a significant reduction and underdevelopment of hair follicles along with a reduced outgrowth of hairs, a complete loss of seromucous nasolabial and mucous tracheal and bronchial glands and a malformation of and reduction in number of teeth. Thermostability of EDA G227R was reduced, consistent with a relatively mild hair and tooth phenotype. However, incisors and canines were more severely affected in one of the calves, which correlated with the presence of a homozygous missense mutation of RNF111 (g.51306765T&gt;G), a putative candidate gene possibly associated with tooth number in EDA-deficient Fleckvieh calves

BAFF 60-mer, and Differential BAFF 60-mer Dissociating Activities in Human Serum, Cord Blood and Cerebrospinal Fluid.

B cell activation factor of the TNF family (BAFF/BLyS), an essential B cell survival factor of which circulating levels are elevated in several autoimmune disorders, is targeted in the clinic for the treatment of systemic lupus erythematosus (SLE). The soluble form of BAFF can exist as 3-mer, or as 60-mer that results from the ordered assembly of twenty 3-mers and that can be obtained from naturally cleaved membrane-bound BAFF or made as a recombinant protein. However, which forms of soluble BAFF exist and act in humans is unclear. In this study, BAFF 3-mer and 60-mer in biological fluids were characterized for size, activity and response to specific stimulators or inhibitors of BAFF. Human cerebrospinal fluids (CSF) from patients with multiple sclerosis and adult human sera contained exclusively BAFF 3-mer in these assays, also when BAFF concentrations were moderately SLE or highly (BAFFR-deficient individual) increased. Human sera, but not CSF, contained a high molecular weight, saturable activity that dissociated preformed recombinant BAFF 60-mer into 3-mer. This activity was lower in cord blood. Cord blood displayed BAFF levels 10-fold higher than in adults and consistently contained a fair proportion of active high molecular weight BAFF able to dissociate into 3-mer but not endowed with all properties of recombinant BAFF 60-mer. If BAFF 60-mer is produced in humans, it is dissociated, or at least attenuated in the circulation

Statuserhebung Genetische Diversität Schwein

Die hier präsentierten Ergebnisse stellen erstmals genomweite Untersuchungen zur Deutschen Landrasse vor. Basis für die Assoziationsstudie waren 288 ausgewählte Eber, welche mit dem 60K BeadChip der Firma Illumina typisiert wurden. Die Untersuchungen zur genetischen Diversität zeigen, dass die Population eine sehr gute Vielfältigkeit an segregierenden Allelen aufweist. Für die Lebenstagszunahme, die Fettfläche und den pH-Wert zeigten sowohl die SNPs als auch die Haplotypen einen engen Bezug zur Merkmalsausprägung

Multiple Loci Are Associated with Dilated Cardiomyopathy in Irish Wolfhounds

Dilated cardiomyopathy (DCM) is a highly prevalent and often lethal disease in Irish wolfhounds. Complex segregation analysis indicated different loci involved in pathogenesis. Linear fixed and mixed models were used for the genome-wide association study. Using 106 DCM cases and 84 controls we identified one SNP significantly associated with DCM on CFA37 and five SNPs suggestively associated with DCM on CFA1, 10, 15, 21 and 17. On CFA37 MOGAT1 and ACSL3 two enzymes of the lipid metabolism were located near the identified SNP