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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE125210 | GEO | 2019/01/17

REPOSITORIES: GEO

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Project description:DNA rearrangements resulting in human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurrent and non-recurrent events. Evidence for an increased rate of clustered single-nucleotide variant (SNV) mutation in cis with non-recurrent rearrangements was found. Indel and SNV formation are associated with both copy-number gains and losses of 17p11.2, occur up to ?1 Mb away from the breakpoint junctions, and favor C > G transversion substitutions; results suggest that single-stranded DNA is formed during the genesis of the SV and provide compelling support for a microhomology-mediated break-induced replication (MMBIR) mechanism for SV formation. Our data show an additional mutational burden of MMBIR consisting of hypermutation confined to the locus and manifesting as SNVs and indels predominantly within genes.

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 [II]

Project description:Human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used orthogonal long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurrent and non-recurrent events. For non-recurrent events we found microhomology and microhomeology at the breakpoint junctions, an excess of deletion rearrangements on paternally-derived haplotypes, and elucidated recalcitrant breakpoints. Our data indicate an increased rate of clustered single nucleotide variant mutation in cis that is not present with recurrent rearrangement of the genome at the same locus. Indel and single nucleotide mutations are associated with both copy number gains and losses of 17p11.2, occur up to ~1 Mb away from the breakpoint junctions, and favor C>G transversion substitutions; results suggesting that single stranded DNA is formed during the genesis of the SV and providing compelling support for a microhomology-mediated break-induced replication mechanism for SV formation.

2019-01-17 | GSE125208 | GEO

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 [III]

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

Project description:Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 [III]

Project description:Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 [III]

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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 [II]