R Fries

Publications (128)333.42 Total impact

• Article: C‐band polymorphism in the karyotype of the rabbit (Oryctolagus cuniculus)1

  M. Switoński, G. Stranzinger, R. Fries
  Journal of Animal Breeding and Genetics 04/2010; 100(1‐5):390 - 400. · 1.46 Impact Factor
• Article: Characterization of the porcine AMPK alpha 2 catalytic subunitgene (PRKAA2): genomic structure, polymorphism detection and association study.

  L Lin, K Flisikowski, H Schwarzenbacher, M Scharfe, S Severitt, H Blöcker, R Fries
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  ABSTRACT: AMP-activated protein kinase (AMPK), known as a key regulator of cellular energy homeostasis, plays an important role in regulation of glucose and lipid metabolism, and protein synthesis in mammals. The characterization of porcine PRKAA2 encoding the alpha 2 catalytic subunit of AMPK is reported in this study. PRKAA2 was assigned to porcine chromosome 6q by analysis of radiation hybrids (IMpRH panel), and its genomic structure was determined by BAC sequencing. PRKAA2 spans more than 62 kb and consists of nine exons and eight introns. A total of 25 polymorphisms were identified by re-sequencing approximately 7 kb, including all the exons, exon-intron boundaries and 5' and 3' gene flanking regions using twelve founder animals of a Mangalitsa x Piétrain intercross. Neither of two single nucleotide polymorphisms (SNPs) found in the coding region caused an amino acid substitution. Two SNPs (NM_214266.1: c.236+142A>G and NM_214266.1: c.630C>T) in PRKAA2 were genotyped in the Mangalitsa x Piétrain F(2) cross (n = 589) and two commercial populations [Piétrain (n = 1173) and German Landrace (n = 536)] and evaluated for association with traits of interest (muscle development and fat deposition). Single SNP and haplotype analyses revealed weak associations between the PRKAA2 genotypes and loin muscle area in the investigated populations.
  Animal Genetics 09/2009; 41(2):203-7. · 2.40 Impact Factor
• Article: A polymorphic microsatellite at the RYR 1 locus in swine

  R Bolt, P Vögeli, R Fries
  Animal Genetics 04/2009; 24(1):72 - 72. · 2.40 Impact Factor
• Article: Variation in neighbouring genes of the dopaminergic and serotonergic systems affects feather pecking behaviour of laying hens.

  K Flisikowski, H Schwarzenbacher, M Wysocki, S Weigend, R Preisinger, J B Kjaer, R Fries
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  ABSTRACT: Feather pecking is a behavioural disorder of laying hens and has serious animal welfare and economic implications. One of the several aetiological hypotheses proposes that the disorder results from redirected exploratory behaviour. Variation in the gene encoding the dopamine D4 receptor (DRD4) has been shown to be associated with exploratory behaviour in several species, including in a passerine bird species. We therefore considered DRD4 as a candidate gene for feather pecking. We have annotated DRD4 in the chicken genome and have re-sequenced it in 140 animals belonging to: experimental layer lines divergently selected for high and low propensity to feather pecking; the unselected founder population; and two commercial lines with low and high propensity to feather pecking. We have identified two sub-haplotypes of DRD4 that are highly significantly associated with feather pecking behaviour in the experimental (P = 7.30 x 10(-7)) as well as in the commercial lines (P = 2.78 x 10(-6)). Linkage disequilibrium (LD) extends into a neighbouring gene encoding deformed epidermal autoregulatory factor 1 (DEAF1). The product of DEAF1 regulates the transcription of the gene encoding the serotonin (5-hydroxytryptamine) 1A receptor. Thus, DEAF1 represents another candidate gene for feather pecking. Re-sequencing of five animals homozygous for the 'low-pecking' sub-haplotype and of six animals homozygous for the 'high-pecking' sub-haplotype delineated an LD block of 14 833 bases spanning the two genes. None of the variants in the LD block is obviously functional. However, the haplotype information will be useful to select against the propensity to feather pecking in chicken and to elucidate the functional implications of the variants.
  Animal Genetics 01/2009; 40(2):192-9. · 2.40 Impact Factor
• Article: Characterization of a 320-kb region containing the HEXA gene on bovine chromosome 10 and analysis of its association with BSE susceptibility.

  K Juling, H Schwarzenbacher, U Frankenberg, U Ziegler, M Groschup, J L Williams, R Fries
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  ABSTRACT: Bovine spongiform encephalopathy (BSE) belongs to a group of neurodegenerative diseases known as transmissible prion diseases. Recently, variants in the promoter region of the prion protein (PRNP) gene have been shown to have a considerable effect on the susceptibility to BSE. However, a previous genome scan revealed other putative BSE-susceptibility loci. Here, we analysed such a region on BTA10, which contains the functional candidate gene HEXA. Three hundred and twenty kilobases that, besides HEXA, also contain ARIH1, BRUNOL6 and PARP6 were characterized and screened for polymorphisms. Genotyping of 38 SNPs in Holstein-Friesian animals from the UK (350 diseased and 270 controls) revealed two intronic SNPs that were associated with BSE incidence, with experiment-wise P-values of 3.5 x 10(-3) and 7.7 x 10(-3) respectively. Both SNPs were in strong linkage disequilibrium and the rare alleles had a protective effect. These alleles were contained in a haplotype dubbed 'UK-protective' that was significantly overrepresented in the controls with a permuted P-value of 2 x 10(-3). An association study in German Holstein animals (73 diseased and 627 controls) revealed an opposite effect of the 'UK-protective' haplotype in this population, i.e. it was overrepresented in the diseased animals, although not significant after correction for multiple testing. These findings indicate a causal variant for BSE susceptibility on BTA10 in linkage disequilibrium with the markers studied. Candidate gene analyses of the surrounding region and additional association studies will help to clarify the origin of the protective effects and to identify causal variants for BSE susceptibility on BTA10.
  Animal Genetics 06/2008; 39(4):400-6. · 2.40 Impact Factor
• Article: Association of the melanocortin 4 receptor with feed intake and daily gain in F2 Mangalitsa x Piétrain pigs.

  K Meidtner, A-K Wermter, A Hinney, H Remschmidt, J Hebebrand, R Fries
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  ABSTRACT: The melanocortin 4 receptor (MC4R) is a key factor in the regulation of energy balance and body weight. Hence it is a candidate for feed intake and energy homeostasis-related traits. Studies in humans and swine have revealed several sequence variants in the gene that are associated with some of these traits. In pigs the coding non-synonymous missense variant Asp298Asn in MC4R has been associated with feed intake, fatness and growth. Here we confirm the association of this Piétrain-derived polymorphism with feed intake and daily gain in the F2 generation of a Mangalitsa x Piétrain cross. In one Piétrain founder animal, we detected an additional non-synonymous missense variant Arg236His. Thus, the MC4R gene could be a useful marker for increased growth in the relatively slow-growing Piétrain breed.
  Animal Genetics 07/2006; 37(3):245-7. · 2.40 Impact Factor
• Article: Validation of sperm sexing in the cattle (Bos taurus) by dual colour fluorescence in situ hybridization.

  F A Habermann, A Winter, I Olsaker, P Reichert, R Fries
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  ABSTRACT: Separation of X- and Y-bearing sperm cells, together with artificial insemination using sex-specific semen, makes it possible to pre-determine the sex of calves. This has the potential to considerably improve cattle breeding, genetic resource management and particularly the efficiency of dairy and meat production. However, the broad use of sexed semen will depend on availability, price, fertilizability and in particular the actual sorting purity of sperm doses. To validate the accuracy of sperm sexing in Bos taurus, we have developed a simple, fast and reliable dual colour fluorescence in situ hybridization (FISH) test, where Y-bearing spermatozoa are identified by a DNA fragment hybridizing to a large pericentromeric repetitive DNA block on the bovine Y chromosome (locus DYZI, Yp13-q12). To avoid an underestimation of Y signals, we used a second DNA probe identifying a large subcentromeric block of complex repetitive DNA on the bovine autosome 6 (locus D6Z1, 6q12-15) as a positive control. Bovine sperm were fixed with methanol:acetic acid and denatured by simply immersing in 3 M NaOH, yielding consistent hybridization results and good preservation of sperm morphology. The FISH protocol was evaluated on unsorted sperm as well as on sperm samples sexed using the Beltsville technology, which separates X- and Y-bearing spermatozoa by staining with Hoechst 33342 and flow sorting according to their DNA content (Johnson et al. 1987).
  Journal of Animal Breeding and Genetics 05/2005; 122 Suppl 1:22-7. · 1.46 Impact Factor
• Article: Mapping of CYP11B and a putative CYHR1 paralogous gene to bovine chromosome 14 by FISH.

  B Kaupe, S Kollers, R Fries, G Erhardt
  Animal Genetics 01/2005; 35(6):478-9. · 2.40 Impact Factor
• Article: Detection and characterization of SNPs useful for identity control and parentage testing in major European dairy breeds.

  F A O Werner, G Durstewitz, F A Habermann, G Thaller, W Krämer, S Kollers, J Buitkamp, M Georges, G Brem, J Mosner, R Fries
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  ABSTRACT: We propose the use of single nucleotide polymorphisms (SNPs) instead of polymorphic microsatellite markers for individual identification and parentage control in cattle. To this end, we present an initial set of 37 SNP markers together with a gender-specific SNP for identity control and parentage testing in the Holstein, Fleckvieh and Braunvieh breeds. To obtain suitable SNPs, a total of 91.13 kb of random genomic DNA was screened yielding 531 SNPs. These, and 43 previously identified SNPs, were subjected to the following selection criteria: (1) the frequency of the minor allele must be larger than 0.1 in at least two of the three examined breeds, and (2) markers should not be linked closely. Allele frequencies were estimated by analysing sequencing traces of pooled DNA or by genotyping individual DNA samples. The selected SNP loci were physically mapped by radiation hybrid mapping or by fluorescence in situ hybridization, and tested against the neutral mutation hypothesis. The presented marker set theoretically allows probabilities of identity less than 10(-13) for individual verification and exclusion powers exceeding 99.99% for parentage testing.
  Animal Genetics 03/2004; 35(1):44-9. · 2.40 Impact Factor
• Article: Assignment of the ovine uroporphyrinogen decarboxylase (UROD) gene to chromosome 1p34 --> p36 by fluorescence in situ hybridization.

  R Nezamzadeh, J Habermann, R Fries, B Brenig
  Cytogenetic and Genome Research 02/2004; 106(1):142. · 1.53 Impact Factor
• Article: Assignment of the porcine stearoyl-CoA desaturase (SCD) gene to SSC14q27 by fluorescence in situ hybridization and by hybrid panel mapping.

  J Ren, C Knorr, F Habermann, R Fries, L S Huang, B Brenig
  Animal Genetics 01/2004; 34(6):471-3. · 2.40 Impact Factor
• Article: Characterization and chromosome localization of a processed pseudogene related to the bovine laminin receptor gene family.

  M Germerodt, C Knorr, J Beck, C Drögemüller, J L Williams, F Habermann, R Fries, B Brenig
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  ABSTRACT: A bovine BAC clone containing a processed laminin receptor pseudogene (LAMR1P) has been isolated and characterized. A 2,901-bp sequence was produced from the clone, of which 1,187 bp represented seven identifiable exon-like domains, but no intervening sequences. The pseudogene sequence reveals several transversions and transitions, as well as insertions and deletions. A premature stop codon motif is present at nucleotide position 115 located in the exon-2-like domain. Physical mapping of the gene was performed by FISH and RH panel mapping and assigned LAMR1P to BTA4q24-->q26 with the closest linkage to BM6458 (19 cR, LOD score of 11.6). The functional laminin receptor putatively plays an important role in the transmission of bovine spongiform encephalopathy (BSE). In this process, the receptor supposedly acts as the binding site for prion proteins to enter mammalian cells. Considering the existence of several human laminin receptor pseudogenes forming a complex family, any knowledge of even pseudogene sequences might be helpful to isolate the functional bovine laminin receptor gene.
  Cytogenetic and Genome Research 01/2004; 107(1-2):123-7. · 1.53 Impact Factor
• Article: DGAT1, a new positional and functional candidate gene for intramuscular fat deposition in cattle.

  G Thaller, C Kühn, A Winter, G Ewald, O Bellmann, J Wegner, H Zühlke, R Fries
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  ABSTRACT: Intramuscular fat content, also assessed as marbling of meat, represents an important beef quality trait. Recent work has mapped a quantitative trait locus (QTL) with an effect on marbling to the centromeric region of bovine chromosome 14, with the gene encoding thyroglobulin (TG) being proposed as a positional and functional candidate gene for this QTL. Recently, the gene encoding diacylglycerol O-acyltransferase (DGAT1), which also has been mapped within the region of the marbling QTL, has been demonstrated to affect the fat content of milk. In the present study, the effects of a 5'-polymorphism of TG and of a lysine/alanine polymorphism of DGAT1 on the fat content of musculus (m.) semitendinosus and m. longissimus dorsi in 55 bovine animals (28 German Holstein and 27 Charolais) has been investigated. Significant effects were found for both candidate genes in both the breeds. These effects seem to be independent of one another because the alleles of the two polymorphisms showed no statistically significant disequilibrium. The DGAT1 effect is mainly on the m. semitendinosus. The TG polymorphism only affects m. longissimus dorsi. However, both intramuscular fat enhancing effects seem to be recessive. The possibility of two linked loci, acting recessively on intramuscular fat content, will require special strategies when selecting for higher marbling scores.
  Animal Genetics 11/2003; 34(5):354-7. · 2.40 Impact Factor
• Article: FISH and RH mapping of the bovine alpha (2)/delta calcium channel subunit gene (CACNA2D1).

  J Buitkamp, D Ewald, J Masabanda, M D Bishop, R Fries
  Animal Genetics 09/2003; 34(4):309-10. · 2.40 Impact Factor
• Article: Effects of DGAT1 variants on milk production traits in German cattle breeds.

  G Thaller, W Krämer, A Winter, B Kaupe, G Erhardt, R Fries
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  ABSTRACT: Various QTL mapping experiments led to the detection of a QTL in the centromeric region of cattle chromosome 14 that had a major effect on the fat content of milk. Recently, the gene encoding diacylglycerol O-acyltransferase (DGAT1) was proposed to be a positional and functional candidate for this trait. This study investigated the effects of a nonconservative lysine to alanine (K232A) substitution in DGAT1, which very likely represents the causal mutation, on milk production traits. Existing granddaughter designs for Fleckvieh and German Holstein, the two major dairy/dual-purpose breeds in Germany, were used to estimate allele frequencies and gene substitution effects for milk, fat, and protein yield, as well as fat and protein content. A restriction fragment length polymorphism assay was applied to diagnose the K232A substitution in DGAT1. Estimates of the allele frequencies for the lysine-encoding variant were based on maternally inherited alleles in sons and amounted to 0.072 for Fleckvieh and 0.548 for German Holstein. Effects of DGAT1 variants on content traits were pronounced; estimates of the gene substitution effect for the lysine-encoding variant were 0.35 and 0.28% for fat content and 0.10 and 0.06% for protein content in Fleckvieh and German Holstein, respectively. Conversely, negative effects of the lysine variant of -242 to -180 kg for Fleckvieh and -260 to -320 kg for German Holstein were revealed for milk yield from first to third lactation, resulting in enhanced fat yield of 7.5 to 14.8 kg in Fleckvieh and 7.6 to 10.7 kg in German Holstein. For protein yield, however, mainly negative effects of -3.6 to 0.2 kg in Fleckvieh and -4.8 to -5.2 kg in German Holstein were observed. Pearson correlations between residuals of milk yield and content traits were decreased when omitting DGAT1 effects in the analysis, thereby indicating that DGAT1 contributes to negative correlations between these traits. Molecular tests allow for the direct selection among variants; however, the benefits of the alternative alleles depend on economic weights given to the different milk production traits in the breeding goal.
  Journal of Animal Science 09/2003; 81(8):1911-8. · 2.10 Impact Factor
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  Article: Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.

  A Winter, M van Eckeveld, O R P Bininda-Emonds, F A Habermann, R Fries
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  ABSTRACT: We report the cloning and initial characterization of the genes encoding DGAT2 (diacylglycerol transferase 2), MOGAT1 and MOGAT2 (monoacylglycerol transferases 1 and 2) in domestic cattle (Bos taurus). The three closely related genes belong to a gene family with at least eight members in mammals and are candidate genes for quantitative traits related to dietary fat uptake, lipid synthesis and storage. MOGAT2 and DGAT2 form a tandem and were mapped to bovine chromosome (BTA) 15q25-->q26 by fluorescence in situ hybridization. MOGAT1 was localized to BTA 2q43-->q44. The three genes were investigated for polymorphisms that might be associated with breeding values for milk fat percentage in the dairy breeds German Holstein, German Simmental and German Brown. All the detected polymorphisms were located outside exons or, with one exception, were silent. In MOGAT1, a missense mutation in exon 4 was found that causes a non-conservative substitution of cysteine170 (uncharged, hydrophobic) by lysine (positively charged, hydrophilic). However, allele frequency estimates from pooled DNA samples revealed no significant association of the observed polymorphisms with breeding values for milk fat percentage. A comparative analysis of chromosomal locations and exon-intron structure of the known members of the DGAT2/MOGAT gene family in humans, rodents and cattle indicates an ancient tandem duplication of the ancestor gene combined with an intron gain (or loss) in one copy. Further members of the family may have arisen by duplications of this gene tandem via two rounds of interchromosomal or genome duplications as well as further local (single) gene duplication and loss events.
  Cytogenetic and Genome Research 02/2003; 102(1-4):42-7. · 1.53 Impact Factor
• Article: Assignment of the beta-N-acetylhexosaminidase gene (HEXB) to porcine chromosome SSC2q21-->q22 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels.

  A Mueller, C Knorr, F Habermann, K Slanchev, D Zwilling, R Fries, B Brenig
  Cytogenetic and Genome Research 02/2003; 101(2):178. · 1.53 Impact Factor
• Article: Assignment of the sperm protein zona receptor tyrosine kinase gene (SPRMTK) to porcine chromosome SSC3q11-->q12 by fluorescence in situ hybridization and by analysis of somatic cell and radiation hybrid panels.

  L Bull, S Jansen, F Habermann, R Fries, C Knorr, B Brenig
  Cytogenetic and Genome Research 02/2003; 101(2):178. · 1.53 Impact Factor
• Article: Assignment of the porcine hyaluronidase-3 (HYAL3) gene to SSC13-->q21 by FISH and confirmation by hybrid panel analyses.

  K Gatphayak, C Knorr, F Habermann, R Fries, B Brenig
  Cytogenetic and Genome Research 02/2003; 101(2):178. · 1.53 Impact Factor
• Article: Assignment of the methylmalonyl-CoA mutase gene (MUT) to porcine chromosome 7q13-->q14 by in situ hybridization and analysis of radiation hybrid panels.

  S Kierstein, U Peters, F A Habermann, R Fries, B Brenig
  Cytogenetic and Genome Research 01/2003; 101(1):92F. · 1.53 Impact Factor