Cargando…

Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing

Wrinkling is prominent manifestation of aging skin. A mutant phenotype characterized by systemic wrinkles and thickened skin was discovered in Xiang pig populations with incidence about 1-3%. The feature in histological structure was epidermal hyperplasia and thickening, collagen fibers disorder. To...

Descripción completa

Detalles Bibliográficos
Autores principales: Xiaoli, Liu, Fengbin, Hu, Shihui, Huang, Xi, Niu, Sheng, Li, Zhou, Wang, Xueqin, Ran, Jiafu, Wang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660620/
https://www.ncbi.nlm.nih.gov/pubmed/34837693
http://dx.doi.org/10.18632/aging.203711
_version_ 1784613226801004544
author Xiaoli, Liu
Fengbin, Hu
Shihui, Huang
Xi, Niu
Sheng, Li
Zhou, Wang
Xueqin, Ran
Jiafu, Wang
author_facet Xiaoli, Liu
Fengbin, Hu
Shihui, Huang
Xi, Niu
Sheng, Li
Zhou, Wang
Xueqin, Ran
Jiafu, Wang
author_sort Xiaoli, Liu
collection PubMed
description Wrinkling is prominent manifestation of aging skin. A mutant phenotype characterized by systemic wrinkles and thickened skin was discovered in Xiang pig populations with incidence about 1-3%. The feature in histological structure was epidermal hyperplasia and thickening, collagen fibers disorder. To uncover genetic mechanisms for the mutant phenotype of Xiang pigs with systemic wrinkle (WXP), a genome-wide of structural variations (SVs) in WXP was described by next generation resequencing, taking Xiang pigs (XP) and European pigs (EUP) as compares. Total of 32,308 SVs were detected from three pig groups and 965 SVs were identified specifically from WXP, involving 481 protein-coding genes. These genes were mainly enriched in nuclear structure, ECM components and immunomodulatory pathways. According to gene function and enrichment analysis, we found that 65 candidate SVs in 59 protein genes were probably related with the systemic wrinkle of WXP. Of these, several genes are reported to be associate with aging, such as EIF4G2, NOLC1, XYLT1, FUT8, MDM2 and so on. The insertion/deletion and duplication variations of SVs in these genes resulted in the loss of stop-codon or frameshift mutation, and aberrant alternative splicing of transcripts. These genes are involved in cell lamin filament, intermediate filament cytoskeleton, supramolecular complex, cell differentiation and regulation of macromolecule metabolic process etc. Our study suggested that the loss of function or aberrant expression of these genes lead to structural disorder of nuclear and the extracellular matrix (ECM) in skin cells, which probably was the genetic mechanisms for the mutant phenotype of systemic skin wrinkle of Xiang pig.
format Online
Article
Text
id pubmed-8660620
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Impact Journals
record_format MEDLINE/PubMed
spelling pubmed-86606202021-12-13 Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing Xiaoli, Liu Fengbin, Hu Shihui, Huang Xi, Niu Sheng, Li Zhou, Wang Xueqin, Ran Jiafu, Wang Aging (Albany NY) Research Paper Wrinkling is prominent manifestation of aging skin. A mutant phenotype characterized by systemic wrinkles and thickened skin was discovered in Xiang pig populations with incidence about 1-3%. The feature in histological structure was epidermal hyperplasia and thickening, collagen fibers disorder. To uncover genetic mechanisms for the mutant phenotype of Xiang pigs with systemic wrinkle (WXP), a genome-wide of structural variations (SVs) in WXP was described by next generation resequencing, taking Xiang pigs (XP) and European pigs (EUP) as compares. Total of 32,308 SVs were detected from three pig groups and 965 SVs were identified specifically from WXP, involving 481 protein-coding genes. These genes were mainly enriched in nuclear structure, ECM components and immunomodulatory pathways. According to gene function and enrichment analysis, we found that 65 candidate SVs in 59 protein genes were probably related with the systemic wrinkle of WXP. Of these, several genes are reported to be associate with aging, such as EIF4G2, NOLC1, XYLT1, FUT8, MDM2 and so on. The insertion/deletion and duplication variations of SVs in these genes resulted in the loss of stop-codon or frameshift mutation, and aberrant alternative splicing of transcripts. These genes are involved in cell lamin filament, intermediate filament cytoskeleton, supramolecular complex, cell differentiation and regulation of macromolecule metabolic process etc. Our study suggested that the loss of function or aberrant expression of these genes lead to structural disorder of nuclear and the extracellular matrix (ECM) in skin cells, which probably was the genetic mechanisms for the mutant phenotype of systemic skin wrinkle of Xiang pig. Impact Journals 2021-11-27 /pmc/articles/PMC8660620/ /pubmed/34837693 http://dx.doi.org/10.18632/aging.203711 Text en Copyright: © 2021 Xiaoli et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Paper
Xiaoli, Liu
Fengbin, Hu
Shihui, Huang
Xi, Niu
Sheng, Li
Zhou, Wang
Xueqin, Ran
Jiafu, Wang
Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing
title Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing
title_full Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing
title_fullStr Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing
title_full_unstemmed Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing
title_short Detection of genomic structure variants associated with wrinkled skin in Xiang pig by next generation sequencing
title_sort detection of genomic structure variants associated with wrinkled skin in xiang pig by next generation sequencing
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660620/
https://www.ncbi.nlm.nih.gov/pubmed/34837693
http://dx.doi.org/10.18632/aging.203711
work_keys_str_mv AT xiaoliliu detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT fengbinhu detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT shihuihuang detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT xiniu detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT shengli detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT zhouwang detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT xueqinran detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing
AT jiafuwang detectionofgenomicstructurevariantsassociatedwithwrinkledskininxiangpigbynextgenerationsequencing