Minimal repeat sequences are ubiquitous sites of unequal crossover and recombination across the human genome

Research Square (Research Square), Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 10, 2025

Background We previously reported that a major portion of trinucleotide two-repeat units (TTUs) are sites unequal crossover and consequent colonization, massively spread shared across the genomes human several other primates. These underscore preference AT- over CG-rich sequences, as recombination sites. Methods Here we extended our study to dinucleotides AT/TA CG/GC. An algorithm was designed extract genomic regions with higher probability recombination. To this end, consisted dinucleotide 3-repeat (D3Us), which hypothesized be basic overlapping units, resulting from between (D2Us). mapped TATATA, ATATAT, CGCGCG, GCGCGC genome, analyzed their colonization (distance consecutive D3Us < 500 bp). also studied colonies various sizes in up 100 vertebrates, using UCSC ENSEMBL Genome Browsers. Results found 3,989,861 95,849 CG/GC majority resided 480,000 colonies, ubiquitously along all chromosomes. The were significantly larger more intricate than colonies. mainly specific to, or largest size human. D2Us primary these emergence recombinants (overlaps among repeats), ranging 5- 15-bp, vast repertoire secondary (recombination pure recombinants), eventually, exceeding intricacy significance, based on Poisson distribution. Conclusion report ubiquitous Across reached maximum It is plausible minimal DNA repeat such D2Us, D3Us, TTUs, mark rule genome. This phenomenon may transform perception recombination, its magnitude, biological evolutionary consequences.

Language: Английский

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A Hypermutable Region in the DISP2 Gene Links to Natural Selection and Late-Onset Neurocognitive Disorders in Humans

Molecular Neurobiology, Journal Year: 2024, Volume and Issue: unknown

Published: April 2, 2024

Language: Английский

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CG-rich trinucleotide two-repeats signify novel recombination hotspots conserved across primates and mouse

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: May 13, 2024

We previously reported colonies of GGC and GCC two-repeat units (dyads) across the human genome, which were conserved great apes. On a genome-wide scale, here we extended our methodology, mapped all combinations C G trinucleotides in human, consisting CCG, CGG, CGC, GGC, GCG, CGC. The majority coincided 81,118 (distance between consecutive < 500 bp). detected pure that overlaps those colonies, signifying unequal crossover recombination at units. Subsequently, performed comparative genomics study several large medium-size other primates mouse. found conserved, yet with extensive dynamicity, as phylogenetically distant In conclusion, CG-rich signify novel hotspots finest molecular resolution,

Language: Английский

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Novel crossover and recombination hotspots massively spread across primate genomes

Biology Direct, Journal Year: 2024, Volume and Issue: 19(1)

Published: Aug. 21, 2024

The recombination landscape and subsequent natural selection have vast consequences forevolution speciation. However, most of the crossover hotspots are yet to be discovered. We previously reported relevance C G trinucleotide two-repeat units (CG-TTUs) in crossovers recombination.

Language: Английский

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Crossover and recombination hotspots massively spread across human genome

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: Jan. 22, 2024

Abstract The recombination landscape and subsequent natural selection have vast consequences in evolution speciation. However, most of the hotspots human genome are yet to be discovered. We previously reported colonies CG-rich trinucleotide two-repeat units (CG-TTUs) across genome, several which were shared, with extensive dynamicity, as phylogenetically distant mouse. Here we performed a whole-genome analysis AT-rich (AT-TTUs) found that majority (96%) resided approximately 1.4 million colonies, spread throughout genome. In comparison CG-TTU AT-TTU significantly more abundant larger size. Pure overlapping pure readily detectable same signifying sites unequal crossover. Subsequently, analyzed primates discovered dynamic sharedness primate species, mainly reached maximum complexity size human. conclusion, report massive crossover finest molecular resolution evolutionary relevance respect recombination, is far than imagined.

Language: Английский

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Novel crossover and recombination hotspots massively spread across human genome

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: May 23, 2024

Background The recombination landscape and subsequent natural selection have vast consequences in evolution speciation. However, most of the hotspots human genome are yet to be discovered. We previously reported hotspot colonies CG-rich trinucleotide two-repeat units (CG-TTUs) across genome, several which were shared, with extensive dynamicity, as phylogenetically distant mouse. Results Here we performed a whole-genome analysis AT (AT-TTUs) found that majority (96%) resided approximately 1.4 million colonies, spread throughout genome. In comparison CG-TTU AT-TTU significantly more abundant larger size. Pure overlapping pure readily detectable same signifying sites unequal crossover. Subsequently, analyzed primates discovered dynamic sharedness primate species, mainly reached maximum complexity size human. Conclusions report novel crossover finest molecular resolution, evolutionary relevance respect recombination, is far than envisioned.

Language: Английский

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The human SMAD9 (GCC) repeat links to natural selection and late-onset neurocognitive disorders

Neurological Sciences, Journal Year: 2024, Volume and Issue: unknown

Published: June 14, 2024

Language: Английский

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