APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease.
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ABSTRACT:
SUBMITTER: Hafliger IM
PROVIDER: S-EPMC7159454 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
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APOB-associated cholesterol deficiency in Holstein cattle is not a simple recessive disease.
Häfliger Irene Monika IM Hofstetter Sonja S Mock Thomas T Stettler Manuela Hanna MH Meylan Mireille M Mehinagic Kemal K Stokar-Regenscheit Nadine N Drögemüller Cord C
Animal genetics 20190618 4
In 2015, cholesterol deficiency (CD) was reported for the first time as a new recessive defect in Holstein cattle. After GWAS mapping and identification of a disease-associated haplotype, a causative loss-of-function variant in APOB was identified. CD-clinically affected APOB homozygotes showed poor development, intermittent diarrhea and hypocholesterolemia and, consequently, a limited life expectation. Herein, we present a collection of 18 cases clinically diagnosed as CD-affected APOB heterozy ...[more]
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