Impact of the Friesian POLLED Mutation on Milk Production Traits in Holstein Friesian

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Faculty of Agricultural and Nutritional Sciences Institute of Animal Breeding and Husbandry Impact of the Friesian POLLED Mutation on Milk Production Traits in Holstein Friesian EAAP 2016 67th Annual Meeting of the European Federation of Animal Science Belfast UK, 29 Aug 2 Sept 2016 L. Gehrke 1, D. Seichter 2, I. Ruß 2, I. Medugorac 3, J. Tetens 1 and G.Thaller 1 1 Institute of Animal Breeding and Husbandary, Christian-Albrechts-University Kiel, Germany, 2 Tierzuchtforschung e.v. München, Grub, Germany, 3 Chair of Animal Genetics and Husbandry, Ludwig-Maximilians-University Munich, Germany

Background Horns are a typical feature of the Bovidae 3 known phenotypes: horned (A), scurred (B) and polled cattle (C) The gene for polledness is present in most of the European cattle breeds albeit in a low frequency on many dairy farms calves are routinely dehorned Dehorning is raising animal welfare issues Interest in breeding genetically hornless cattle increased in the last decades Wiedemar et al. (2013) doi:10.1371/journal.pone.0093435.g001

Background The POLLED Locus Autosomal dominant inheritence of polledness (Spillman 1905) The POLLED locus is located on the proximal end of BTA1 (Georges et al. 1993) 1.Friesian mutation P F : 80kb duplication esp. Holstein Friesian and Jersey 2.Celtic mutation P C : 202 bp InDel esp. beef and dual purpose breeds Both mutations are not located within known coding sequences, regulatory elements or splice sites (Medugorac et al. 2012) Allelic heterogeneity at the POLLED locus (breed specific mutations) Allais-Bonnet et al. (2013) doi:10.1371/journal.pone.0063512.g002

Associated Phenotypes Background Allais-Bonnet et al. (2013) doi:10.1371/journal.pone.0063512 Allais-Bonnet et al. (2013) doi:10.1371/journal.pone.0063512 Defects of the genital tract preputial eversion, pending prepuce, abnormal preputial withdrawal Linked to P C in Charolais bulls Atypical eyelashes bushy eyelashes, double rows of eyelashes, hair growing on the inner part of the eyelid Perfect association to P C and P F

Background Comparison of EBVs of polled and horned bulls (Lamminger et al. (2000)) Polled bulls were inferior in breeding values for milk, fat and protein. But they were superior in the paternal component for fertility, type and muscularity Comparison of horned and polled sons of Pp Bulls Genomic combined relative breeding value for milk (RZM) Average RZM (no considerations of different breeds): pp: 114,11 Pp: 112,76 * PP: 111,51 * * sign. differences to pp Segelke (2014) personal communication

Objective Are the POLLED mutations causative for the stated differences in milk performance? Hypothesis: There is a pleiotropic effect of the POLLED mutations acting in different epidermal tissues, e.g. mammary gland.

Experimental Design Basic idea: Comparison of milk production traits of horned and polled daughters of heterozygous polled Holstein Friesian bulls. Data 478 daughters of 8 heterozygous polled sires Born between 2009-2012 323 Black Holstein Friesian 155 Red Holstein Friesian No. of daughters Hypotheses: There is a significant difference in milk production traits 1.Between polled and horned cows 2.Between polled and horned daughters of one sire sire

Methods Statistical Analysis (R 3.2.2): Independent two sample t-test ANOVA for multiple factors: y = µ + GENO ijklmn i + BREED j + SIREk + BIRTHl + FARM m + e ijklmn y ijklmn : observation on the n th animal of i th genotype, j th breed, kth sire, l th year of birth and the m th farm µ: mean GENO i : effect of the i th genotype (i= horned and polled) BREED j : effect of the j th breed (j= Black Holstein and Red Holstein) SIRE k : BIRTH l : FARM m : e ijklmn : effect of the k th sire (k= 1,,8) year of birth of the l th animal (l=2009,,2012) effect of the m th farm (m=1,,132) random error associated with the measurement on the n th animal of the i th genotype, j th breed, k th sire, l th year of birth and the m th farm

Results I ANOVA for multiple factors across sires Trait Lactation No. n Estimator of the group polled Std. error p-value YD milk, kg 1 472-89.29 45.15 0.049 YD protein, kg 1 472-2.51 1.28 0.051 YD fat, kg 1 472-3.79 1.74 0.029 RZD* 467 0.67 0.29 0.025 * RZD: relative breeding value for milking speed Significant differences between polled and horned cows for the traits, milk yield, protein yield fat yield of the first lactation and for the relative breeding value for milking speed.

Results II Comparison of polled and horned daughters within sires Independent two sample t-test for the trait yield deviations of milk yield of the first lactation sire t DF p value Ø p/p Ø Pf/p 297913 93-0.142 0.887 758.098 769.640 471322 47 1.185 0.242 1115.064 959.200 506286 78 1.461 0.148 1291.759 1170.663 832435 60 0.482 0.632 642.392 592.926 916401 119 0.712 0.478 794.299 737.315 Only sires with > 40 daughters were regarded The same tendency of the horned group having a higher average milk production can be observed This tendency is substantial in three out of five sires

Discussion and Perspective Theories 1. The POLLED mutation is causative for the lower milk production. It leads to a modification of epidermal tissues, e.g. in the horn area and in the mammary gland 2. The mutation is linked to an unknown QTL for milk production Perspective Extension of the sample (more daughters per sire, more sires) Incorporate additional traits

Inclusion of SNP-Genotyped Daughters No. of Daughters HB No. Sire Comparison of the RZM of the original data set and the data set including all SNP-genotyped daughters Old Data Set New Data Set trait lactation no. n mean sd n mean sd RZM -- 478 100.40 10.43 1059 105.09 10.7

Acknowledgements We would like to thank all breeding companies and farmers that participated in the project. Further on we would like give thanks to Friedrich Reinhardt and Dr. Dierck Segelke (vit) for providing the phenotypical data. Additionally we thank the H. Wilhelm Schaumann foundation for financial support.

Thank you for your attention!

Summary statistics Trait Lactation No. n mean sd min max YD milk, kg 1 474 847 458-579.47 2379.12 YD protein, kg 1 474 25.6 13.5-10.81 66.55 YD fat, kg 1 474 19.0 18.5-38.44 75.30 RZD -- 469 99.2 2.9 87 111

Milking Speed vs Fat Content fat content (%) milking speed (min) Umstätter (1973)

Means of the horned and polled group Complete data set trait lactation n mean in p/p mean in Pf/p YD milk, kg 1 472 878 816 YD protein, kg 1 472 26.6 24.6 YD fat, kg 1 472 20.3 17.8 Animals with missing data for the second lactation trait lactation n mean in p/p mean in Pf/p YD milk, kg 1 30 1043 777 YD protein, kg 1 30 32.9 24.7 YD fat, kg 1 30 24.9 20.6