Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7 DOI Creative Commons

Nicholas Pasternack,

O Paulsen,

Avindra Nath

и другие.

Frontiers in Genetics, Год журнала: 2025, Номер 16

Опубликована: Янв. 27, 2025

Human endogenous retroviruses (HERV) represent nearly 8% of the human genome. Of these, HERV-K subtype HML-2 is a transposable element that plays critical role in embryonic development and pathogenesis several diseases. Quantification characterization these multiple insertions chromosome has been challenging due to their size, sequence homology with each other, repetitive nature. We examined cohort 222 individuals for proviruses 6q14.1 7p22.1a, two loci are capable producing full-length viral proteins have previously implicated cancers, autoimmune disorders neurodegenerative diseases, using long-read DNA sequencing. While reference genome both regions suggests structurally dissimilar, we found about 5% unique tandem repeat-like (three long terminal repeat sequences sandwiching internal, potentially protein coding sequences), while most standard proviral structure (one internal region sandwiched by repeats). Moreover, can make full-length, or transcription orientations. The amino acid from different same transcriptional orientation share other. These results demonstrate clear, unreported, relationship between 7p22.1a highlight utility sequencing study elements. Future studies need determine if polymorphisms genetic susceptibility diseases associated them.

Язык: Английский

Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7 DOI Creative Commons

Nicholas Pasternack,

O Paulsen,

Avindra Nath

и другие.

Frontiers in Genetics, Год журнала: 2025, Номер 16

Опубликована: Янв. 27, 2025

Human endogenous retroviruses (HERV) represent nearly 8% of the human genome. Of these, HERV-K subtype HML-2 is a transposable element that plays critical role in embryonic development and pathogenesis several diseases. Quantification characterization these multiple insertions chromosome has been challenging due to their size, sequence homology with each other, repetitive nature. We examined cohort 222 individuals for proviruses 6q14.1 7p22.1a, two loci are capable producing full-length viral proteins have previously implicated cancers, autoimmune disorders neurodegenerative diseases, using long-read DNA sequencing. While reference genome both regions suggests structurally dissimilar, we found about 5% unique tandem repeat-like (three long terminal repeat sequences sandwiching internal, potentially protein coding sequences), while most standard proviral structure (one internal region sandwiched by repeats). Moreover, can make full-length, or transcription orientations. The amino acid from different same transcriptional orientation share other. These results demonstrate clear, unreported, relationship between 7p22.1a highlight utility sequencing study elements. Future studies need determine if polymorphisms genetic susceptibility diseases associated them.

Язык: Английский

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