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.

Chillemi, G., Bongiorni, S., Gioiosa, S., Flati, T., Castrignanò, T., Milanesi, M., Ajmone Marsan, P., Valentini, A., Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences, <<ITALIAN JOURNAL OF ANIMAL SCIENCE>>, 2018; 17 (2): 301-305. [doi:10.1080/1828051X.2017.1370362] [http://hdl.handle.net/10807/116038]

Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences

Milanesi, Marco;Ajmone Marsan, Paolo;Valentini, Alessio
2018

Abstract

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.
Inglese
Chillemi, G., Bongiorni, S., Gioiosa, S., Flati, T., Castrignanò, T., Milanesi, M., Ajmone Marsan, P., Valentini, A., Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences, <<ITALIAN JOURNAL OF ANIMAL SCIENCE>>, 2018; 17 (2): 301-305. [doi:10.1080/1828051X.2017.1370362] [http://hdl.handle.net/10807/116038]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/116038
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