Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expression in the Central Nervous System DOI Open Access
Lauren S. Hughes, Alexander Fröhlich, Abigail L. Pfaff

и другие.

Опубликована: Дек. 26, 2023

Transposable elements (TEs) are repetitive which make up around 45% of the human genome. A class TEs known as SINE-VNTR-Alu (SVA) demonstrate capacity to mobilise throughout genome, resulting in SVA polymorphisms for presence or absence within population. Although studies have previously highlighted involvement neurodegenerative diseases, such Parkinson’s disease and amyotrophic lateral sclerosis (ALS), however exact mechanism has yet be identified. In this study we used whole genome sequencing RNA data ALS patients healthy controls from New York Genome Center Consortium, elucidate influence reference on gene expression genome-wide central nervous system (CNS) tissues. To investigate this, applied matrix quantitative trait loci analysis demonstrated that insertion can significantly modulate numerous genes, preferentially trans position, a tissue-specific manner. We also highlight SVAs regulate mitochondrial genes well HLA MAPT loci, associated disease. conclusion, continues bring light effects polymorphic regulation further highlights importance pathology.

Язык: Английский

Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expression in the Central Nervous System DOI Open Access
Lauren S. Hughes, Alexander Fröhlich, Abigail L. Pfaff

и другие.

Опубликована: Дек. 26, 2023

Transposable elements (TEs) are repetitive which make up around 45% of the human genome. A class TEs known as SINE-VNTR-Alu (SVA) demonstrate capacity to mobilise throughout genome, resulting in SVA polymorphisms for presence or absence within population. Although studies have previously highlighted involvement neurodegenerative diseases, such Parkinson’s disease and amyotrophic lateral sclerosis (ALS), however exact mechanism has yet be identified. In this study we used whole genome sequencing RNA data ALS patients healthy controls from New York Genome Center Consortium, elucidate influence reference on gene expression genome-wide central nervous system (CNS) tissues. To investigate this, applied matrix quantitative trait loci analysis demonstrated that insertion can significantly modulate numerous genes, preferentially trans position, a tissue-specific manner. We also highlight SVAs regulate mitochondrial genes well HLA MAPT loci, associated disease. conclusion, continues bring light effects polymorphic regulation further highlights importance pathology.

Язык: Английский

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