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novel approaches to expression and detection of oestrus in dairy cows

novel approaches to expression and detection of oestrus in dairy cows

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CHAPTER 3 – S<strong>in</strong>gle Nucleotide Polymorphisms <strong>and</strong><br />

Their Association with Oestrous Expression<br />

3.1 INTRODUCTION<br />

Oestrous <strong>detection</strong> is becom<strong>in</strong>g <strong>in</strong>creas<strong>in</strong>gly difficult <strong>in</strong> the modern <strong>dairy</strong><br />

cow as oestrous <strong>expression</strong> is dim<strong>in</strong>ished. Cows display a shorter <strong>and</strong> less<br />

<strong>in</strong>tense <strong>oestrus</strong> (Van Eerdenburg et al., 1996;Dransfield et al., 1998), with<br />

fewer <strong>cows</strong> st<strong>and</strong><strong>in</strong>g <strong>to</strong> be mounted (Dobson et al., 2008). Therefore poor<br />

<strong>expression</strong> <strong>of</strong> <strong>oestrus</strong> leads <strong>to</strong> more difficult <strong>detection</strong> <strong>of</strong> <strong>oestrus</strong> (Lucy,<br />

2001). It is possible that genomics might provide a <strong>novel</strong> solution <strong>to</strong> the<br />

problem.<br />

Us<strong>in</strong>g a genomic approach <strong>to</strong> improve oestrous <strong>expression</strong> <strong>in</strong>volves<br />

<strong>in</strong>vestigat<strong>in</strong>g the possible associations <strong>of</strong> s<strong>in</strong>gle nucleotide polymorphisms<br />

(SNPs) with phenotypic traits that denote <strong>oestrus</strong>. A SNP is a s<strong>in</strong>gle base<br />

pair change <strong>in</strong> the sequence <strong>of</strong> DNA which causes variation <strong>in</strong> the<br />

genotype. A SNP can take on two allelic forms, <strong>in</strong>teract<strong>in</strong>g with other SNPs<br />

at different loci, caus<strong>in</strong>g common variants among the population, <strong>and</strong> thus<br />

differences <strong>in</strong> the phenotype <strong>of</strong> animals <strong>in</strong> many traits (Berglund, 2008).<br />

These polymorphisms <strong>in</strong> DNA can affect gene <strong>expression</strong>, translation <strong>and</strong><br />

transcription which <strong>in</strong> turn can affect prote<strong>in</strong> function. With rapid<br />

development <strong>of</strong> genomics dense SNP arrays were <strong>in</strong>vented work<strong>in</strong>g on the<br />

pr<strong>in</strong>ciple <strong>of</strong> 1000s <strong>of</strong> SNPs approximately 1cm apart <strong>in</strong> the genome. It is<br />

expected that there will always be a SNP <strong>in</strong> close proximity <strong>to</strong> a gene or<br />

DNA fragment <strong>of</strong> <strong>in</strong>terest <strong>in</strong>herited by l<strong>in</strong>kage disequilibrium (Meuwissen et<br />

al., 2001). The Bov<strong>in</strong>eSNP50 provides a low cost, high density, genome<br />

wide genotyp<strong>in</strong>g <strong>in</strong> cattle <strong>to</strong> enhance selection (Illum<strong>in</strong>a, 2011). However,<br />

use <strong>of</strong> SNP chips is based on associations <strong>of</strong> sequence variation <strong>and</strong> not on<br />

underst<strong>and</strong><strong>in</strong>g the biological <strong>in</strong>formation <strong>to</strong> make more <strong>in</strong>formed decisions<br />

based on phenotypic <strong>in</strong>formation. There are many effects <strong>of</strong> SNPs <strong>and</strong> so a<br />

relationship must be determ<strong>in</strong>ed between each SNP <strong>and</strong> a functional trait<br />

(Ibeagha-Awemu et al., 2008). Study<strong>in</strong>g genomic <strong>in</strong>formation allows l<strong>in</strong>ks<br />

<strong>to</strong> be made between SNP variants <strong>and</strong> physiological data (Berglund, 2008),<br />

which is beneficial for selection as ga<strong>in</strong>s <strong>in</strong> fertility can be achieved us<strong>in</strong>g<br />

genomic selection whilst susta<strong>in</strong><strong>in</strong>g high milk production (Veerkamp et al.,<br />

2000).<br />

A number <strong>of</strong> SNPs have been reported for their association with<br />

reproductive traits <strong>and</strong> associations with fertility. SNPs <strong>in</strong> FGF2 <strong>and</strong> STAT5A<br />

67

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