Long-term pedigree analysis: An effective tool for managing congenital malformations in cattle

https://doi.org/10.17221/70/2022-CJASCitation:

Čítek J., Večerek L., Šlosárková S., Fleischer P., Vostrý L., Vostrá-Vydrová H., Schröffelová D., Kučera J. (2022): Long-term pedigree analysis: An effective tool for managing congenital malformations in cattle. Czech J. Anim. Sci., 67: 385–393.

supplementary materialdownload PDF

Controlling congenital defects is an important aspect of breeding for genetic health; however, whether malformations are caused by genetic or nongenetic factors may not be clear. This study aims to analyse the incidence of aplasia genitalis, atresia ani et recti and hernia cerebralis in the Czech cattle population, analyse the relatedness of affected calves by a relationship matrix, and assess the potential future threat. The sires fathering affected calves were born in the Czech Republic or imported from 1986 to 2001. The cases occurred on farms across the Czech Republic. The pedigree of each case was examined for common maternal and paternal ancestors (inbreeding loops) and for ancestors shared by other cases of the defect. The average relatedness coefficient of each individual was computed based on the relationship matrix. The results of the analysis of pedigrees and of the relationship matrix support the hereditary aetiology. The 13 calves affected by aplasia genitalis had common ancestors in 12 cases. The results indicate hereditary causation with recessive inheritance. In atresia ani et recti, some of the pedigrees of 25 affected calves support hereditary causation, and repeating ancestors were found for 11 calves. Our analysis of 11 hernia cerebralis cases also hints at the genetic background, but not as unequivocally as in other congenital defects studied. A high number of descendants fathered by sires of affected calves constitutes a risk for future. The relationship matrix and pedigree analysis could help in managing genetic health, although the final goal in terms of inherited defects must be the description of causal genes and mutations. Measures to control sires and dams with affected calves should be appropriate under the current knowledge, which include culling or prudent use of breeding with the monitoring of descendants.

References:
Albarella S, Ciotola F, D’Anza E, Coletta A, Zicarelli L, Peretti V. Congenital malformations in river buffalo (Bubalus bubalis). Animals. 2017 Feb 10;7(2): 15 p.
 
Azizi S, Mohammadi R, Mohammadpour I. Surgical repair and management of congenital intestinal atresia in 68 calves. Vet Surg. 2010 Jan 6;39:115-20.  https://doi.org/10.1111/j.1532-950X.2009.00611.x
 
Bezdicek J, Nesvadbova A, Makarevich A, Kubovicova E. Negative impact of heat stress on reproduction in cows: Animal husbandry and biotechnological viewpoints: A review. Czech J Anim Sci. 2021 Jul 28;66(8):293-301.  https://doi.org/10.17221/44/2021-CJAS
 
Casas E, Kehrli ME Jr. A review of selected genes with known effects on performance and health of cattle. Front Vet Sci. 2016 Dec 15;3: 11 p.  https://doi.org/10.3389/fvets.2016.00113
 
Charlier C, Coppieters W, Rollin F, Rollin F, Desmecht D, Agerholm JS, Cambisano N, Carta E, Dardano S, Dive M, Fasquelle C, Frennet JC, Hanset R, Hubin X, Jorgensen C, Karim L, Kent M, Harvey K, Pearce BR, Simon P, Tama N, Nie H, Vandeputte S, Lien S, Longeri M, Fredholm M, Harvey RJ, Georges M. Highly effective SNP-based association mapping and management of recessive defects in livestock. Nat Genet. 2008 Mar 16;40:449-54.
 
Citek J, Rehout V, Schroeffelova D, Hradecka E. Frequency of BLAD and CVM alleles in sires and elite heifers of Czech Holstein cattle. German Vet J. 2008;115(12):475-7.
 
Citek J, Rehout V, Hajkova J. Congenital disorders in the cattle population of the Czech Republic. Czech J Anim Sci. 2009;54(2):55-64.  https://doi.org/10.17221/1668-CJAS
 
Falconer DS, Mackay TFC. Introduction to quantitative genetics. 4th ed. Harlow, UK: Longman; 1996. 464 p.
 
Garrick DJ, Ruvinsky A. The genetics of cattle. 2nd ed. Wallingford, UK: CABI Publishing; 2015. 1275 p.
 
Guerrier D, Mouchel T, Pasquier L, Pellerin I. The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – Phenotypic manifestations and genetic approaches. J Neg Res Biomed. 2006 Jan 27;5: 8 p.  https://doi.org/10.1186/1477-5751-5-1
 
Gutierrez-Reinoso MA, Aponte PM, Cabezas J, Rodriguez-Alvarez L, Garcia-Herreros M. Genomic evaluation of primiparous high-producing dairy cows: Inbreeding effects on genotypic and phenotypic production-reproductive traits. Animals. 2020 Sep 21;10(9): 18 p.  https://doi.org/10.3390/ani10091704
 
Hofmannova M, Pribyl J, Krupa E, Pesek P. Estimation of inbreeding effect on conception in Czech Holstein. Czech J Anim Sci. 2019 Jul;64(7):309-16.  https://doi.org/10.17221/154/2018-CJAS
 
Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, Gustavsson P, Lindstrand A. Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish. Human Mut. 2018 Apr;39(4):495-505.  https://doi.org/10.1002/humu.23388
 
Kisipan ML, Orenge CO, Gacheru DN, Ngure RM. A case of cranium bifidum with meningocele in Ayrshire calf. BMC Vet Res. 2016 Dec;13(1): 5 p.  https://doi.org/10.1186/s12917-016-0936-9
 
Kochneva ML, Glazko TT, Zhuchaev KV, Kosovskiy GY, Glazko VI. Haematopoietic chimerism expressivity in bovine heterosexual twins. Ind J Anim Sci. 2016 Jul;86(7):822-5.
 
Kyselova J, Tichy L, Jochova K. The role of molecular genetics in animal breeding: A minireview. Czech J Anim Sci. 2021 Apr;66(4):107-11.
 
Lapointe JM, Lachance S, Steffen DJ. Tibial hemimelia, meningocele, and abdominal hernia in Shorthorn cattle. Vet Pathol. 2000 Sep;37(5):508-11.
 
Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: Insights into neurodevelopment and pathogenesis of neural tube defects. Mol Neurobiol. 2011 Feb;43(1):12-26.
 
Martens A, Gasthuys F, Steenhaut M, De Moor A. Surgical aspects of intestinal atresia in 58 calves. Vet Rec. 1995 Feb 11;136(6):141-4.
 
Millar P, Lauvergne JJ, Dolling CHS. Mendelian inheritance in cattle. Wageningen, the Netherlands: Wageningen Pers, 2000.
 
OMIA – Online Mendelian Inheritance in Animals [Internet]. University of Sydney. 2020 [cited 2020 Oct 20]. Available from: https://omia.org/home/.
 
Pytlik J, Savvulidi FG, Duchacek J, Codl R, Vrhel M, Nagy S, Stadnik L. Effect of extender on the quality and incubation resilience of cryopreserved Holstein bull semen. Czech J Anim Sci. 2022 Mar;67(3):75-86.
 
Rolo A, Galea GL, Savery D, Greene N, Copp AJ. Novel mouse model of encephalocele: Post-neurulation origin and relationship to open neural tube defects. Dis Mod Mech. 2019 Nov 14;12(11): 10 p.
 
Seitz JJ, Schmutz SM, Thue TD, Buchanan FC. A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and Shorthorn cattle. Mamm Genome. 1999 Jul;10(7):710-2.
 
Shaw AO. A skull defect in cattle. J Hered. 1938;21:319-20. https://doi.org/10.1093/oxfordjournals.jhered.a104529
 
Stadnik L, Duchacek J, Pytlik J, Gasparik M, Codl R, Vrhel M. Cow metabolic status assessed from fat/protein ratio in milk affected ovarian response and number of transferable embryos after superovulation. Czech J Anim Sci. 2022 Feb;67(2):39-46. https://doi.org/10.17221/187/2021-CJAS
 
van der Gaag I, Tibboel D. Intestinal atresia and stenosis in animals: A report of 34 cases. Vet Pathol. 1980 Sep;17(5):565-74.
 
Zaganjor I, Sekkarie A, Tsang BL, Williams J, Razzaghi H, Mulinare J, Sniezek JE, Cannon MJ, Rosenthal J. Describing the prevalence of neural tube defects worldwide: A systematic literature review. PLoS One. 2016 Apr 11;11(4): 31 p.
 
Zavadilova L, Kasna E, Krupova Z, Klimova A. Health traits in current dairy cattle breeding: A review. Czech J Anim Sci. 2021 Jun;66(7):235-50. https://doi.org/10.17221/163/2020-CJAS
 
Zhang W, Zhou X, Liu L, Zhu Y, Liu C, Pan H, Xing Q, Wang J, Wang X, Zhang X, Cao Y, Wang B. Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina. Oncotarget. 2017 Jan 2;8(5):8785-90.
 
supplementary materialdownload PDF

© 2022 Czech Academy of Agricultural Sciences | Prohlášení o přístupnosti