Table 5. Genome sequence context for ARRDC3 and NFIA SNPs associated with BCHF.
Genome position | SNP identifier | Flanking features in 19 beef breeds d | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Chr a | UMD3.1 (bp) | ARS-UCD1.2 (bp) | Gene | Bead Array | rs number | Alias | A 1/A 2 b | 200 bp flanking genome sequence c | Type | ARS-UCD1.2 (bp) | Diff. (bp) | MAF |
7 | 93229001 | 90830012 | ARRDC3 | BovineHD0700027233 | rs110586518 | BCHF60 | A /G |
5′-TACTCCAGAGTATCAGGGACCCATGAGGAATGATCAAGAAATGAAAATGGGGGAAAATGGGATTTTAAAATGGGTGGAAAGAAGTAAG
MATTGGGTGAGA
[ A/G] GATGAAAACCTAGACGAGGAGGGTAGCAACGGGAGTGGAAGAACAGGGACAGGGACCCTGGAGATCTTACGAGAAGACCGAGGAAACTTCATACCTTACT-3′ |
SNP
SNP |
90830000
90830012 |
-12
0 |
0.281
0.281 |
7 | 93231670 | 90832681 | ARRDC3 | BovineHD0700027234 | rs135607340 | BCHF61 | A /G |
5′-CTTAGAGAACGAAACGAGTTAATAGATTTTCCTCAAATTGGAGCAATTTTCTTCTTCTTTATTGAATCAGGAAAGCTAACT
RTCAAAGAGGCATAGAGTG
[ A/G] CGTAGATAATGCCCTAAGGTAACAAAACTCTATTATGTTGTGTTACATTAGCACCGAGCGAAGGGTATTTTA RAAGGAAATTTCACTGTGTAATAAGGGG-3′ |
SNP
SNP SNP |
90832662
90832681 90832754 |
-19
0 +73 |
0.083
0.281 0.083 |
7 | 93243245 | 90844254 | ARRDC3 | BovineHD0700027237 | rs109439459 | BCHF33 | A /G |
5′-TAAGAGACCAGTCCAATGCTGGGTCAGACTTTGTATTAAGTATTGACAATCTAACTTTTAATCTGTTGTTCAAAATTATTTATTTCTCTCTTACCATGAT
[ A/G] ATCAAAACCTAACTGTATTTTCAGAAACTCTGCAATATTGCTTAGTAAGAGTCAGCCCATTTTGTACTTGAGGGTGTGATGCTTACCTCTGAATAAAGGG-3′ |
SNP | 90844254 | 0 | 0.281 |
7 | 93243714 | 90844723 | ARRDC3 | BovineHD0700027238 | rs136675904 | BCHF34 | C /T |
5′-GGAAATATACATTTTAAATCTAACATTAGGGGCACACCCCATTCTTCAATACAGACAAATTTTATCTAATCATAAAATATCAGAAGCAAAATTATTTTCT
[ C/T] GCAAATACCAGATTAAGCTTAGATACGCATTATCAAATTATTACCTTCAGGTCTTTCAGGTAGGGATAAACCAAGCCAGTTCATGTTCATGCTACACTGA-3′ |
SNP | 90844723 | 0 | 0.281 |
7 | 93244933 | 90845941 | ARRDC3 | BovineHD0700027239 e | rs109901274 | BCHF5 | T /C |
5′-TCAGTCTTGGTGGGAGTCCACCTCATACGTACCTGGCGTATAGCCCTTCCTTTCGATCTTGGCACTTAAGGATATGGGGCCTGAGGTACAGAACCAGCAA
[ T/C] AGAGAGTCTTTTCTTTTGTGCCTGCTTGGGGTGACTGTAAGATATAAATTTAGAG RAAAAAATCAAGGTATGAATTGAGACAGGAATAAAATTTTTAAAA-3′ |
SNP
SNP |
90845941
90845997 |
0
+56 |
0.224
0.177 |
7 | 93247780 | 90848788 | ARRDC3 | BovineHD0700027240 | rs135153741 | BCHF35 | G /T |
5′-ATGACAGACTTGATATGTTCTCTTTTTTCAGCTAATGCTGATGGTGAACTATTAAGTGCTTACTATTTGACTAGCACCTTCCAATTCATTCACTTTAAAT
[ G/T] AAATACTTTTAAACACCATACAAATCCTGGGACGGAATATTGAGGTTTGCTTTCTATAATTTTGCCACTCCAGATTAAAAAATAGCTT YTTTTTTTTTAG-3′ |
SNP
SNP |
90848788
90848877 |
0
+89 |
0.412
0.068 |
7 | 93251138 | 90851664 | ARRDC3 | BovineHD0700027241 | rs110066813 | BCHF36 | T /C |
5′-GTTTGTCCCCGTAAGTCGTATTATTATTCTACTTTTACCCCACTGCACACCACAACTCCTTAAAAACCTGTTTCTTCTAACCCATCTTAAAAAAAGCTAC
[ T/C] AGTCAAGGAAGGATCAAATACAAACTCCTGGGCGTCCTGTTCAGCCAATACCAGGACTGTCATTAGGCAGTTCCATTTCTTATGACTGTCAGTGCTTGGA-3′ |
SNP | 90851664 | 0 | 0.260 |
7 | 93263102 | 90863630 | ARRDC3 | BovineHD0700027244 | rs109860522 | BCHF62 | C /T |
5′-CAGTGTTTAATCTGTCAGTGTAGGACTCATTAATTGTTGTTGTTGAATTATTCTTTTTTATTTCAGTAGGGCTTCCTTTCCCAAAATAATGTTTAGTTAT
[ C/T] AATAAACAACTCTTTACGTGATTGAAGACATTGTTTTCCACAAATTTATACATTTTGCCCCCAGATATGTTTAAAGTATATATATGCAC YATATTTGCTA-3′ |
SNP
SNP |
90863630
90863720 |
0
+90 |
0.260
0.021 |
7 | 93281534 | 90882079 | ARRDC3 | BovineHD0700027248 | rs110253449 | BCHF63 | T /C |
5′-TTCTTTTTGCCTGG
KGCTGCACAGATCTTGAAGTCACTGCCAAACTAACTCTGCAGTGGCAACTTCAGAACACAAAATAAGCACTAGACCTAGAAATGCT
[ T/C] GACACCCAAACTTAACGTATAGTCAAATAAATGGTTTAGTCTAGCACCTACCAGCCTTTAAGAAGAGCTTGTCAGTATACTCTTTCCTGTTGAAAGGAAA-3′ |
SNP
SNP |
90881993
90882079 |
-86
0 |
0.026
0.276 |
3 | 85123495 | 84578325 | NFIA | BovineHD0300024307 | rs136210820 | BCHF31 | G /A |
5′-TTTTCCCTGGA
WGAAATGAACTGCTGACATTCCGTGAACTCTATCTTTGCCTCACTTCTCACCCTGACCGTCAAACAAAGAAATCTGTCTTGAGTTCCAC
[ G/A] ATGTACCCCATGTCACTATGACTAATCCAAAGCATTTTTATTTACAGTGTTCAGAAT RAATTTCTATGACAATCTCATGCCATTCTCACGTGCCTTTTGA-3′ |
SNP
SNP SNP |
84578236
84578325 84578383 |
-89
0 +58 |
0.042
0.448 0.052 |
3 | 85125825 | 84580655 | NFIA | BovineHD0300024308 | rs133192205 | BCHF32 | T /C |
5′-TTACTAACCATGGACCAAGGACACATTTCTCAGCCTCTTTGTTTCTCAGCAGCATTAAGGCAATTATAAAAGCTCCCCTATCTAAAAGGTAAGATTTACA
[ T/C] GAAGAACTAATAAAATAATGTATAAGAACCAACTTAAATATCATAGAAATGAACAACACTAGTCTAGCAGATCTGGCTTTCATCCTGGCTCTGCCACTTA-3′ |
SNP | 84580655 | 0 | 0.422 |
3 | 85254825 | 84707876 | NFIA | BovineHD0300024366 f | rs42583839 | BCHF2 | T /C |
5′-
tatctgcatgcaatgcaggagacctgggttcaatccctgggtcaggaagatcccctggaggagggcatggcaa
TACTTCTGCTCTTGCTTAGAATAAAAT
[ T/C] CAGTTCCCATGACAACCTGGTGGCCCTGAGGAG MCCGAAC RACTCCTGCTGCAGGGACCTGACCCTGTTCCGCTGCCTCCCTGTACATTCTGATCTGCGG-3′ |
SNP
SNP SNP |
84707876
84707910 84707917 |
0
+34 +41 |
0.464
0.021 0.073 |
Chromosome.
A1 was defined as the most frequent allele in the group of 204 BCHF cases and controls and the orientation is consistent with the ARS-UCD1.2 top strand (antisense strand in ARRDC3 and NFIA genes). The bolded red allele is associated with risk.
Sequence orientiation is consistent with the ARS-UCD1.2 top strand. Each sequence aligned uniquely to the reference genome except BovineHD0300024366 (rs42583839) which contained 75 bp of repetative sequence denoted in lowercase (blue).
Derived from WGS data with USMARC beef cattle diversity panel version 2.9 (MBCDPV2.9, Heaton et al., 2016), and PLINK software (v1.9, Chang et al., 2015) with filters for MAF greater than or equal to 0.015, and missing genotypes less than or equal to 0.05.
SNP BovineHD0700027239 corresponds to ARRDC3 C182Y (codon tRt) in exon 4 where tGt encodes C182 and tAt encodes Y182.
SNP BovineHD0300024366 was included for comparison, since it was used in early analyses for obtaining frequency data of U.S. cattle breeds in Table 4.