76 research outputs found

    Bovine polledness

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    The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for a solution in the production of hornless cattle other than dehorning. Although the dominant inhibition of horn morphogenesis was discovered more than 70 years ago, and the causative mutation was mapped almost 20 years ago, its molecular nature remained unknown. Here, we report allelic heterogeneity of the POLLED locus. First, we mapped the POLLED locus to a ∼381-kb interval in a multi-breed case-control design. Targeted re-sequencing of an enlarged candidate interval (547 kb) in 16 sires with known POLLED genotype did not detect a common allele associated with polled status. In eight sires of Alpine and Scottish origin (four polled versus four horned), we identified a single candidate mutation, a complex 202 bp insertion-deletion event that showed perfect association to the polled phenotype in various European cattle breeds, except Holstein-Friesian. The analysis of the same candidate interval in eight Holsteins identified five candidate variants which segregate as a 260 kb haplotype also perfectly associated with the POLLED gene without recombination or interference with the 202 bp insertion-deletion. We further identified bulls which are progeny tested as homozygous polled but bearing both, 202 bp insertion-deletion and Friesian haplotype. The distribution of genotypes of the two putative POLLED alleles in large semi-random sample (1,261 animals) supports the hypothesis of two independent mutations

    Jahrbuch des Archivs der deutschen Jugendbewegung. Fünfter Band 1973

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    Rolf Gardiner; Alt-Wandervogel; Vom Jugendbund zum Lebensbund; Jugendbewegung und Arbeitsdienst; Wyneken und Spitteler; Karl Brügmann, Archiv der Jugendmusikbewegung; Archiv des Bayrischen Pfadfinderbunde

    Bovine Polledness – An Autosomal Dominant Trait with Allelic Heterogeneity

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    The persistent horns are an important trait of speciation for the family Bovidae with complex morphogenesis taking place briefly after birth. The polledness is highly favourable in modern cattle breeding systems but serious animal welfare issues urge for a solution in the production of hornless cattle other than dehorning. Although the dominant inhibition of horn morphogenesis was discovered more than 70 years ago, and the causative mutation was mapped almost 20 years ago, its molecular nature remained unknown. Here, we report allelic heterogeneity of the POLLED locus. First, we mapped the POLLED locus to a ∼381-kb interval in a multi-breed case-control design. Targeted re-sequencing of an enlarged candidate interval (547 kb) in 16 sires with known POLLED genotype did not detect a common allele associated with polled status. In eight sires of Alpine and Scottish origin (four polled versus four horned), we identified a single candidate mutation, a complex 202 bp insertion-deletion event that showed perfect association to the polled phenotype in various European cattle breeds, except Holstein-Friesian. The analysis of the same candidate interval in eight Holsteins identified five candidate variants which segregate as a 260 kb haplotype also perfectly associated with the POLLED gene without recombination or interference with the 202 bp insertion-deletion. We further identified bulls which are progeny tested as homozygous polled but bearing both, 202 bp insertion-deletion and Friesian haplotype. The distribution of genotypes of the two putative POLLED alleles in large semi-random sample (1,261 animals) supports the hypothesis of two independent mutations

    Jahrbuch des Archivs der deutschen Jugendbewegung. Fünfter Band 1973

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    Rolf Gardiner; Alt-Wandervogel; Vom Jugendbund zum Lebensbund; Jugendbewegung und Arbeitsdienst; Wyneken und Spitteler; Karl Brügmann, Archiv der Jugendmusikbewegung; Archiv des Bayrischen Pfadfinderbunde

    DNA sequence variants in Polled and horned Holstein Friesian.

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    <p>(<b>a</b>) Positions of DNA sequence variants (DSV) detected in the eight HF animals are presented by bars for SNPs and inverted triangles for InDels, with red symbols for heterozygous and blue symbols for homozygous differences from the reference sequence. Homozygous polled bulls are PP-HF1, PP-HF2 and PP-HF3. Pp-HF4 is declared as heterozygous polled and pp-HF5, pp-HF6, pp-HF7 and pp-HF8 are horned. Annotated genes and ESTs lying in the re-sequenced region are shown in the green shaded region. The five candidate mutations for polledness are superimposed: three SNPs were outlined by red crosses, 5 bp InDel and the duplicated region P<sub>80kbID</sub> were highlighted by inverted triangle. The red triangle area above P<sub>80kbID</sub> marks the duplicated sequence. (<b>b</b>) Within-species conservation. The nucleotide diversity in the re-sequenced region is shown by a density plot of bovine variants from dbSNP per kb. (<b>c</b>) Copy number variations. The ratio of mapped sequence reads between polled and horned animals is plotted with blue dots. The red line represents the result of segmentation analysis, showing the average ratio in the determined bins. (<b>d</b>) Across-species conservation. For each candidate mutation the surrounding base conservation for species without horn, bovid species and all aligned species was determined as <i>PhastCons</i> score calculated from <i>multiz</i> alignments. As an example, here we display the base conservation for the candidate mutation P<sub>C1768587A</sub>. (<b>e</b>) The underlying multi-species alignment for the across-species conservation calculation for the candidate region is shown in plot d. The candidate mutation P<sub>C1768587A</sub> is highlighted within a red frame and stars in red and black indicate identity among bovid and all animals, respectively.</p

    Distribution of <i>POLLED</i> candidate variants in European cattle breeds.

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    <p>The largest proportion (shown in the row marked %) of genotyped animals (78.03%) were homozygous for the wild-type allele at all six candidate variants of the <i>POLLED</i> locus, i.e. they inherited two copies of the RefSeq haplotype p<sub>rs</sub> presented by vertical gray bar. Plausibility analyses suggested all these 1261 (shown in the row marked with N<sup>o</sup>) p<sub>rs</sub>/p<sub>rs</sub> animals as being horned, therefore pp at the <i>POLLED</i> locus. Five candidate mutations detected by sequencing of polled and horned Holstein-Friesian animals form a haplotype block (P<sub>5ID</sub>­P<sub>G1654405A</sub>­P<sub>C1655463T</sub>­P<sub>C1768587A</sub>­P<sub>80kbID</sub>) consisting of three SNPs flanked by two InDels and called P<sub>F</sub> signifying polledness of Friesian origin. The five candidate mutations of Friesian polledness were superimposed on RefSeq background (vertical gray bar): three SNPs and a 5 bp InDel were outlined by red horizontal bars and the duplicated region P<sub>80kbID</sub> by the red area. The P<sub>F</sub> block is in perfect association with <i>POLLED</i> genotype and segregate only in cattle breeds originating from north-western coast of continental Europe (HF, RH, JY and WTG). The candidate mutation P<sub>202ID</sub> is represented by black horizontal bar on RefSeq background. All animals carrying one (86) or two copies (192) of the P<sub>202ID</sub> are polled (Pp or PP, respectively) and belong to breeds originating from Scandinavia, Great Britain, France and South-Germany, hereafter figuratively called polledness of Celtic origin, P<sub>C</sub>. Three bulls with PP genotype determined by extensive progeny testing were found to be heterogeneous polled at candidate gene level, i.e. P<sub>C</sub>/P<sub>F</sub>. The genotyping of their sampled relatives as well as entire experimental design provide no evidence for recombination within P<sub>F</sub> haplotype block. The geographic origin of the sampled breeds is outlined by dots on Europe map. Breeds lacking polled samples are represented by gray dots. The breeds with P<sub>202ID</sub> as only causal variant or variant in perfect association with <i>POLLED</i> locus are marked by black dots. The breeds with P<sub>F</sub> as predominant variant in perfect association with <i>POLLED</i> locus are marked by red dots. The approximate distribution area of Celtic and Friesian polledness are highlighted as gray and red shading respectively.</p

    Homozygosity mapping in case-control design of polled and horned cattle animals.

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    <p>(<b>a</b>) Genome-wide association mapping of the <i>POLLED</i> mutation to the proximal end of bovine chromosome 1 (BTA1) with 162 affected animals and 162 controls (<i>asshom</i> method, Charlier <i>et al</i>. 2008). Nominal <i>asshom</i> statistic is presented chromosome by chromosome for all 29 bovine autosomes. Evidence for association (y axis) is measured as nominal <i>asshom</i> statistic with genome-wide significance (<i>P</i> = 0.0002, grey line) at 3.315, being determined by 50,000 nominal <i>asshom</i> statistics along chromosomes with randomly permutated markers. (<b>b</b>) Association mapping details for the region from 0 to 4 Mb on BTA1. Nine markers homozygous in all 162 cases covered a region from 1,760,113 to 1,983,902. Two informative SNP markers flanking this core (i.e. variable sites in the case group) are <i>ARS-BFGL-NGS-39992</i> (1,668,494 bp) and <i>ARS-BFGL-NGS-29653</i> (2,049,400 bp). (<b>c</b>) Candidate region of 547 kb (1.543–2.090 Mb (UMD3.1 genome build)) chosen for high-throughput sequencing and most likely encompassing the <i>POLLED</i> mutation. This interval is larger than homozygosity bracket detected by multi-breed design and nested five genes (IL10RB, IFNAR2, OLIG1, C1H21orf62 and GCFC1), one pseudo gene (OLIG2-like) and some not further annotated ESTs (e.g. BC122836, EV693397 and DT837875).</p
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