A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle

BMC Genomics

Table 1 Genotypes of four variants compatible with recessive inheritance

Chr	Position	NCBI reference ID	Variant	Genotypes			Gene	Effect
Chr	Position	NCBI reference ID	Variant	Calf	58952	41 animals	Gene	Effect
21	70,679,787	rs381259516	InDel	del/del	del/G	G/G	intergenic	-
21	70,842,696	rs384306864	SNP	TT	CC	CC	INF2	p.H1231Y
21	71,001,232	rs378824791	SNP	AA	GG	GG	PLD4	p.W215X
21	71,315,111	rs385301007	SNP	TT	CC	CC	LOC100299595 (=PACS2)	intron 30

Whole-genome re-sequencing of 43 animals revealed 7,660 polymorphic sites within the 1,032 kb segment on BTA 21. Among them, three SNPs and one InDel agree with the supposed inheritance pattern (i.e., the affected calf is homozygous for the alternative allele and the controls are heterozygous or homozygous for the reference allele). 58952 is a healthy animal being homozygous for the disease-associated haplotype.

ISSN: 1471-2164