TY - JOUR
T1 - Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
AU - Chillemi, Giovanni
AU - Bongiorni, Silvia
AU - Gioiosa, Silvia
AU - Flati, Tiziano
AU - Castrignanò, Tiziana
AU - Milanesi, Marco
AU - Ajmone Marsan, Paolo
AU - Valentini, Alessio
PY - 2018
Y1 - 2018
N2 - A previous genome scan on 323 Piedmontese individuals identified a cluster of 13 SNPs significantly associated with direct calving ease and centred on the three genes LAP3, LCORL and NCAPG in chromosome 6. We investigated missense mutations affecting calving ease in Piedmontese cattle in the identified region using sequences from the whole exome in eight Piedmontese individuals chosen from the extremes of the direct calving ease estimated breeding values distribution for this trait. The present study has not found missense variants in LAP3 and LCORL, while two were identified on NCAPG by three different variant calling methods. Other gene candidates in the same region harbour missense mutations, such as PPM1K, PKD2, SPP1 and MEPE, but both SIFT analysis and chi-square test on frequency of alleles make us hypothesise that NCAPG is the single gene responsible for the trait variation. The two SNPs on NCAPG are in complete linkage disequilibrium in our samples; therefore, further investigations are needed in order to discriminate their role.
AB - A previous genome scan on 323 Piedmontese individuals identified a cluster of 13 SNPs significantly associated with direct calving ease and centred on the three genes LAP3, LCORL and NCAPG in chromosome 6. We investigated missense mutations affecting calving ease in Piedmontese cattle in the identified region using sequences from the whole exome in eight Piedmontese individuals chosen from the extremes of the direct calving ease estimated breeding values distribution for this trait. The present study has not found missense variants in LAP3 and LCORL, while two were identified on NCAPG by three different variant calling methods. Other gene candidates in the same region harbour missense mutations, such as PPM1K, PKD2, SPP1 and MEPE, but both SIFT analysis and chi-square test on frequency of alleles make us hypothesise that NCAPG is the single gene responsible for the trait variation. The two SNPs on NCAPG are in complete linkage disequilibrium in our samples; therefore, further investigations are needed in order to discriminate their role.
KW - Animal Science and Zoology
KW - NCAPG
KW - NGS
KW - Piedmontese
KW - calving ease
KW - whole-exome sequencing
KW - Animal Science and Zoology
KW - NCAPG
KW - NGS
KW - Piedmontese
KW - calving ease
KW - whole-exome sequencing
UR - http://hdl.handle.net/10807/116038
UR - http://www.tandfonline.com/loi/tjas20#.vpslwlfuhfo
U2 - 10.1080/1828051X.2017.1370362
DO - 10.1080/1828051X.2017.1370362
M3 - Article
SN - 1594-4077
VL - 17
SP - 301
EP - 305
JO - Italian Journal of Animal Science
JF - Italian Journal of Animal Science
ER -