The Journal of Animal Genetics
Online ISSN : 1884-3883
Print ISSN : 1345-9961
ISSN-L : 1345-9961
Autosomal recessive genes in dairy cow's reproduction; incidence, consequences and future perspectives
Mohamed Elshabrawy GHANEMMasahide NISHIBORI
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2008 Volume 36 Issue 1 Pages 53-61


The incidence of various inherited diseases has been reported in cattle and these diseases have caused problems in the breeding and reproduction of dairy cattle. This article reviews the incidence and consequences of the following three hereditary diseases in Holstein dairy cattle. I. Deficiency of uridine monophosphate synthase (DUMPS), II. Factor XI deficiency (FXI) and III. Complex vertebral malformation (CVM) . DUMPS was caused by nonsense mutation (C→T) with the loss of an Ava I site at colon 405 of the UMPS gene. The practical effect of this disorder is that carrier cows show a higher rate of return to service, because some of their pregnancies end in early natural abortion. The mutation of FXI deficiency consisted of a 76-base insertion into exon 12. The insertion consisted of long strings of adenine (A) bases with a stop colon TAA. Heterozygous carriers may show lower calving rate and repeat breeding. CVM caused by a mutation in the gene SLC35A3 coding a uridine diphosphate N-acetylglucosamine transporter. A single-base transversion of guanine to thymine has been located in the abnormal allele at position 559. Lowered fertility was noticed in CVM carrier cows and a number of reproductive indices were significantly reduced in those cows. In conclusion, DUMPS, FXI and CVM were associated with a decline in cattle fertility through embryonic death, repeat breeding and abortion with some vertebral anomalies in the aborted fetuses, respectively. The identification of these mutations had provided the basis for DNA-based diagnostic systems for these three diseases. Implantation of screening program of bulls and cows will reduce the incidences of these hereditary diseases in Japanese dairy farms.

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