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

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 identif...

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Main Authors: Giovanni Chillemi, Silvia Bongiorni, Silvia Gioiosa, Tiziano Flati, Tiziana Castrignanò, Marco Milanesi, Paolo Ajmone Marsan, Alessio Valentini
Format: Article
Language:English
Published: Taylor & Francis Group 2018-04-01
Series:Italian Journal of Animal Science
Subjects:
Online Access:http://dx.doi.org/10.1080/1828051X.2017.1370362
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author Giovanni Chillemi
Silvia Bongiorni
Silvia Gioiosa
Tiziano Flati
Tiziana Castrignanò
Marco Milanesi
Paolo Ajmone Marsan
Alessio Valentini
author_facet Giovanni Chillemi
Silvia Bongiorni
Silvia Gioiosa
Tiziano Flati
Tiziana Castrignanò
Marco Milanesi
Paolo Ajmone Marsan
Alessio Valentini
author_sort Giovanni Chillemi
collection DOAJ
description 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.
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spelling doaj.art-8111d81dcdbe4defb5fce2ae1e714b8c2022-12-21T20:36:31ZengTaylor & Francis GroupItalian Journal of Animal Science1594-40771828-051X2018-04-0117230130510.1080/1828051X.2017.13703621370362Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidencesGiovanni Chillemi0Silvia Bongiorni1Silvia Gioiosa2Tiziano Flati3Tiziana Castrignanò4Marco Milanesi5Paolo Ajmone Marsan6Alessio Valentini7CINECA, SCAIUniversità della TusciaCINECA, SCAICINECA, SCAICINECA, SCAIUniversità Cattolica del Sacro CuoreUniversità Cattolica del Sacro CuoreUniversità della TusciaA 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.http://dx.doi.org/10.1080/1828051X.2017.1370362ncapgpiedmontesecalving easewhole-exome sequencingngs
spellingShingle Giovanni Chillemi
Silvia Bongiorni
Silvia Gioiosa
Tiziano Flati
Tiziana Castrignanò
Marco Milanesi
Paolo Ajmone Marsan
Alessio Valentini
Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
Italian Journal of Animal Science
ncapg
piedmontese
calving ease
whole-exome sequencing
ngs
title Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
title_full Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
title_fullStr Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
title_full_unstemmed Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
title_short Missense mutations of NCPAG gene affect calving ease in Piedmontese cattle: preliminary evidences
title_sort missense mutations of ncpag gene affect calving ease in piedmontese cattle preliminary evidences
topic ncapg
piedmontese
calving ease
whole-exome sequencing
ngs
url http://dx.doi.org/10.1080/1828051X.2017.1370362
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