Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms
Abstract The aim of the study was to find associations between the process of neoplastic transformation and mtDNA mutations/polymorphisms, i.e. factors with potential prognostic significance, and to determine their impact on the biochemical properties, as well as structural, and functional propertie...
Published in: | Annals of Animal Science |
---|---|
Main Authors: | , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Walter de Gruyter GmbH
2019
|
Subjects: | |
Online Access: | http://dx.doi.org/10.2478/aoas-2019-0027 https://content.sciendo.com/view/journals/aoas/19/3/article-p619.xml https://www.sciendo.com/pdf/10.2478/aoas-2019-0027 |
id |
crdegruyter:10.2478/aoas-2019-0027 |
---|---|
record_format |
openpolar |
spelling |
crdegruyter:10.2478/aoas-2019-0027 2024-05-19T07:38:45+00:00 Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms Kowal, Krzysztof Ślaska, Brygida Bownik, Adam Horecka, Beata Gawor, Jan Śmiech, Anna Tkaczyk, Angelika 2019 http://dx.doi.org/10.2478/aoas-2019-0027 https://content.sciendo.com/view/journals/aoas/19/3/article-p619.xml https://www.sciendo.com/pdf/10.2478/aoas-2019-0027 en eng Walter de Gruyter GmbH http://creativecommons.org/licenses/by-nc-nd/3.0 Annals of Animal Science volume 19, issue 3, page 619-632 ISSN 2300-8733 journal-article 2019 crdegruyter https://doi.org/10.2478/aoas-2019-0027 2024-05-02T06:51:40Z Abstract The aim of the study was to find associations between the process of neoplastic transformation and mtDNA mutations/polymorphisms, i.e. factors with potential prognostic significance, and to determine their impact on the biochemical properties, as well as structural, and functional properties of proteins. Blood and neoplastic tissue samples were collected from a 9-year-old Labrador dog with a diagnosed malignant mammary tumour. Next-generation genome sequencing (NGS) of the entire mitochondrial genome was performed using Illumina technology, and bioinformatics analyses were carried out. This is the first report demonstrating the application of NGS in the analysis of the canine mtDNA genome in neoplastic disease. The proposed strategy is innovative and promising. For the first time in the literature, the sequence of 29 genes was analysed to determine their association with the prevalence of tumour. In total, 32 polymorphic loci and 15 mutations were identified. For the first time, as many as 24 polymorphisms and all the mutations have been described to be associated with the neoplastic process in dogs. Most polymorphisms/mutations were found in the D-loop (31% of the polymorphisms and 93% of the mutations) and the COX1 gene sequence (16% of the polymorphisms). Blood or cancer heteroplasmy was noted in 93% of the mutations. Four of the 18 polymorphisms detected in the protein-coding genes were non-synonymous polymorphisms that have not been described in the literature so far (m.T7593C in COX2 , m.G8807A in COX3 , m.A9911G in ND4L , and m.T13299A in ND5 ) but resulted in changes in amino acids in proteins. These mutations and polymorphisms can affect mitochondrial functions and may be a result of cell adaptation to the changes in the environment occurring during carcinogenesis. The replacement of “wild type” mtDNA by a mutated molecule may be an important phenomenon accompanying carcinogenesis. Article in Journal/Newspaper Canis lupus De Gruyter Annals of Animal Science 19 3 619 632 |
institution |
Open Polar |
collection |
De Gruyter |
op_collection_id |
crdegruyter |
language |
English |
description |
Abstract The aim of the study was to find associations between the process of neoplastic transformation and mtDNA mutations/polymorphisms, i.e. factors with potential prognostic significance, and to determine their impact on the biochemical properties, as well as structural, and functional properties of proteins. Blood and neoplastic tissue samples were collected from a 9-year-old Labrador dog with a diagnosed malignant mammary tumour. Next-generation genome sequencing (NGS) of the entire mitochondrial genome was performed using Illumina technology, and bioinformatics analyses were carried out. This is the first report demonstrating the application of NGS in the analysis of the canine mtDNA genome in neoplastic disease. The proposed strategy is innovative and promising. For the first time in the literature, the sequence of 29 genes was analysed to determine their association with the prevalence of tumour. In total, 32 polymorphic loci and 15 mutations were identified. For the first time, as many as 24 polymorphisms and all the mutations have been described to be associated with the neoplastic process in dogs. Most polymorphisms/mutations were found in the D-loop (31% of the polymorphisms and 93% of the mutations) and the COX1 gene sequence (16% of the polymorphisms). Blood or cancer heteroplasmy was noted in 93% of the mutations. Four of the 18 polymorphisms detected in the protein-coding genes were non-synonymous polymorphisms that have not been described in the literature so far (m.T7593C in COX2 , m.G8807A in COX3 , m.A9911G in ND4L , and m.T13299A in ND5 ) but resulted in changes in amino acids in proteins. These mutations and polymorphisms can affect mitochondrial functions and may be a result of cell adaptation to the changes in the environment occurring during carcinogenesis. The replacement of “wild type” mtDNA by a mutated molecule may be an important phenomenon accompanying carcinogenesis. |
format |
Article in Journal/Newspaper |
author |
Kowal, Krzysztof Ślaska, Brygida Bownik, Adam Horecka, Beata Gawor, Jan Śmiech, Anna Tkaczyk, Angelika |
spellingShingle |
Kowal, Krzysztof Ślaska, Brygida Bownik, Adam Horecka, Beata Gawor, Jan Śmiech, Anna Tkaczyk, Angelika Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms |
author_facet |
Kowal, Krzysztof Ślaska, Brygida Bownik, Adam Horecka, Beata Gawor, Jan Śmiech, Anna Tkaczyk, Angelika |
author_sort |
Kowal, Krzysztof |
title |
Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms |
title_short |
Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms |
title_full |
Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms |
title_fullStr |
Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms |
title_full_unstemmed |
Analysis of Mitochondrial Genome from Labrador ( Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms |
title_sort |
analysis of mitochondrial genome from labrador ( canis lupus familiaris) with mammary gland tumour reveals novel mutations and polymorphisms |
publisher |
Walter de Gruyter GmbH |
publishDate |
2019 |
url |
http://dx.doi.org/10.2478/aoas-2019-0027 https://content.sciendo.com/view/journals/aoas/19/3/article-p619.xml https://www.sciendo.com/pdf/10.2478/aoas-2019-0027 |
genre |
Canis lupus |
genre_facet |
Canis lupus |
op_source |
Annals of Animal Science volume 19, issue 3, page 619-632 ISSN 2300-8733 |
op_rights |
http://creativecommons.org/licenses/by-nc-nd/3.0 |
op_doi |
https://doi.org/10.2478/aoas-2019-0027 |
container_title |
Annals of Animal Science |
container_volume |
19 |
container_issue |
3 |
container_start_page |
619 |
op_container_end_page |
632 |
_version_ |
1799478250581262336 |