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While variation in the Mc1r coding region does not correlate with melanism in any population, in a New Hampshire population, we find that a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression and is perfectly associated with melanic color.
DNA sequencing revealed a 10 bp deletion in the NDRG1 gene, which is perfectly associated with the polyneuropathy phenotype in Greyhound show dogs.
However, DNA sequencing revealed a non-synonymous mutation in the PITX3 gene, which is perfectly associated with the microphthalmia phenotype in Texel sheep.
Here we show that the ovine microphthalmia phenotype is perfectly associated with a missense mutation (c.338G>C, p.R113P) in the evolutionary conserved homeodomain of PITX3.
Another missense mutation in SUGT1 is perfectly associated with a haplotype causing early embryonic losses.
A Fleckvieh-specific, evolutionarily unlikely missense mutation in SUGT1 is perfectly associated with FH4.
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In fact, the day of mailing may not be perfectly associated with the day of reading.
A 10 bp deletion in canine NDRG1 exon 15 (c.1080_1089delTCGCCTGGAC) was perfectly associated with the polyneuropathy phenotype of Greyhound show dogs.
Only one of these polymorphisms, the synonymous SNP c.2229C>T located in exon 20 of the MFN2 gene, was perfectly associated with the phenotype in the eight animals.
Våge and coworkers [2] showed that a rare blue phenotype in arctic foxes in Scandinavia was perfectly associated with two amino acid substitutions in mc1r.
In the 12 exons and adjacent intron regions of the MTHFR gene, we identified 11 polymorphisms but none of them was perfectly associated with the disease in the eight animals of our mutation analysis.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com