Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexes

Table 1 Polymorphic variation in bovine poly-Q genes

Gene Symbol	Gene Coodinates¹	Q-tract²	Allele No.	Prob. Bt vs Bi⁴	Prob. beef vs dairy⁵
ABCF1	BTA23: c28,330,331-28,317,176	G1A1G9A1	3	NS	NS
C10ORF26	BTA26: 23,731,487-23,787,266	G8	1	-	-
*CACNA1A* ⁶	BTA7: 10,407,726-10,660,224	G6	3	< 0.05	< 0.01
CREBBP	BTA25: c3,741,183-3,622,474	G5A1G3A1G5	4	< 0.001	NS
EXDL2	BTA10: 83,270,819-83,301,240	G9A1	3	< 0.0001	NS
FAM155A	BTA12: c80,851,585-81,459,510	G10	6	< 0.0001	NS
FAM48A	BTA12:24,343,037-24,382,185	G1A1G6	3	< 0.0001	NS
FXC1	BTA15: c45,697,647-45,662,984	G10A1	18	< 0.0001	< 0.001
*HTT* ⁶	BTA6: 120,080,853-120,204,565	G15	9	< 0.0001	<0.01
LRCH4	BTA25: 38,082,422-38,093,009	G7	3	< 0.0001	NS
*MED12* ⁶	BTAX: c49,328,169-49,305,901	G6A1G2A1G1A	5	< 0.01	NS
		1G13A1G1N4G5
MED15	BTA17: c75,807,030-75,798,191	G6NG1NG3N3G	3	< 0.001	NS
		10NG1NG2N3G
		3NG1N3G5NG4
MEF2A	BTA21: c5,782,758-5,605,728	G5	1	-	-
MLL3	BTA4: c119,034,986-118,841,623	G5A1	4	< 0.0001	NS
NCOR1	BTA19: 34,217,888-34,332,169	G10	2	< 0.0001	NS
RUNX2	BTA23: 19,237,338-19,466,747	G3A2G3A1G5A	1	-	-
		1G3A1G2
ST6GALNAC5	BTA3: c72,520,937-72,308,057	G7	3	< 0.0001	NS
*TBP* ⁶	BTAUN: WGA3026_4: 46,413-59,300	G5A1G13	4	< 0.0001	NS
THAP11	BTA18: 34,372,276-34,373,950	G5A1G4A1G1A	5	< 0.05	NS
		1G5
AR³,⁶	BTAX: c51,674,166-51,881,948	G3A1G4;	1	-	-
		G3A1G4	1	-	-
NFYA ³	BTA23: 15,621,415-15,645,446	G3;	1	-	-
		G2	1	-	-
ODAM ³	BTA6: 88,472,908-88,481,760	A1G4	1	-	-

¹BTAU4.0 bovine genome assembly (UCSC genome browser). BTA, chromosome number; UN, chromosome unknown; c, complementary strand.
²Length and purity of repeat triplet codon. G, A and N followed by a number represent CAG, CAA and other triplet codon tracts, respectively, that were present in the BTAU 4.0 bovine genome assembly. Multiple closely linked Q-tracts are shown as a single entity connected by Ns. Multiple discontinuous Q-tracts within a gene that were assayed are separated by a semi-colon. The Q-tract for NFYA traversed a splice site and is represented by two genomic regions each of which was genotyped.
³These genes were not ranked highly for potential polymorphic variation using the hierarchical prioritisation criteria.
⁴Probability of difference in allele frequencies between Bos taurus taurus and Bos taurus indicus animals (Fisher exact test [25]). NS, not significant.
⁵Probability of difference in allele frequencies between Bos taurus taurus beef and dairy breeds (Fisher exact test [25]). NS, not significant.
⁶Bolded gene symbols have been linked with human diseases caused by poly-Q tract expansions or mutations [53].

ISSN: 1471-2164