Lethal and semi-lethal mutations in Holstein calves in Uruguay

ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbre...

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Main Authors: Carolina Briano-Rodriguez, Agustín Romero, Silvia Llambí, Andrea Branda Sica, María Teresa Federici Rodriguez, Federico Giannitti, Rubén Dario Caffarena, Carlos Omar Schild, María Laura Casaux, Fernando Dutra Quintela
Format: Article
Language:English
Published: Universidade Federal de Santa Maria 2021-04-01
Series:Ciência Rural
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000700652&tlng=en
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author Carolina Briano-Rodriguez
Agustín Romero
Silvia Llambí
Andrea Branda Sica
María Teresa Federici Rodriguez
Federico Giannitti
Rubén Dario Caffarena
Carlos Omar Schild
María Laura Casaux
Fernando Dutra Quintela
author_facet Carolina Briano-Rodriguez
Agustín Romero
Silvia Llambí
Andrea Branda Sica
María Teresa Federici Rodriguez
Federico Giannitti
Rubén Dario Caffarena
Carlos Omar Schild
María Laura Casaux
Fernando Dutra Quintela
author_sort Carolina Briano-Rodriguez
collection DOAJ
description ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbreeding have decreased the breed’s fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.
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spelling doaj.art-92d97bf91ae5490cbc9251d0ae7dc87d2022-12-21T19:34:48ZengUniversidade Federal de Santa MariaCiência Rural1678-45962021-04-0151710.1590/0103-8478cr20200734Lethal and semi-lethal mutations in Holstein calves in UruguayCarolina Briano-Rodriguezhttps://orcid.org/0000-0002-5295-9550Agustín Romerohttps://orcid.org/0000-0001-5110-1846Silvia Llambíhttps://orcid.org/0000-0003-2594-9338Andrea Branda Sicahttps://orcid.org/0000-0002-4919-2563María Teresa Federici Rodriguezhttps://orcid.org/0000-0002-2795-4635Federico Giannittihttps://orcid.org/0000-0001-8799-6848Rubén Dario Caffarenahttps://orcid.org/0000-0002-2141-3264Carlos Omar Schildhttps://orcid.org/0000-0002-7851-3039María Laura Casauxhttps://orcid.org/0000-0002-6736-4816Fernando Dutra Quintelahttps://orcid.org/0000-0003-4886-9429ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbreeding have decreased the breed’s fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000700652&tlng=enbovine hereditary diseasesbrachyspinaHolstein haplotypessyndactylycholesterol deficiencycomplex vertebral malformationBLAD
spellingShingle Carolina Briano-Rodriguez
Agustín Romero
Silvia Llambí
Andrea Branda Sica
María Teresa Federici Rodriguez
Federico Giannitti
Rubén Dario Caffarena
Carlos Omar Schild
María Laura Casaux
Fernando Dutra Quintela
Lethal and semi-lethal mutations in Holstein calves in Uruguay
Ciência Rural
bovine hereditary diseases
brachyspina
Holstein haplotypes
syndactyly
cholesterol deficiency
complex vertebral malformation
BLAD
title Lethal and semi-lethal mutations in Holstein calves in Uruguay
title_full Lethal and semi-lethal mutations in Holstein calves in Uruguay
title_fullStr Lethal and semi-lethal mutations in Holstein calves in Uruguay
title_full_unstemmed Lethal and semi-lethal mutations in Holstein calves in Uruguay
title_short Lethal and semi-lethal mutations in Holstein calves in Uruguay
title_sort lethal and semi lethal mutations in holstein calves in uruguay
topic bovine hereditary diseases
brachyspina
Holstein haplotypes
syndactyly
cholesterol deficiency
complex vertebral malformation
BLAD
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782021000700652&tlng=en
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