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Revised time estimation of the ancestral human chromosome 2 fusion.
Poszewiecka, Barbara; Gogolewski, Krzysztof; Stankiewicz, Pawel; Gambin, Anna.
Afiliação
  • Poszewiecka B; Institute of Informatics, Warsaw University, Warsaw, Poland. b.poszewiecka@mimuw.edu.pl.
  • Gogolewski K; Institute of Informatics, Warsaw University, Warsaw, Poland.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, US.
  • Gambin A; Institute of Informatics, Warsaw University, Warsaw, Poland.
BMC Genomics ; 23(Suppl 6): 616, 2022 Aug 25.
Article em En | MEDLINE | ID: mdl-36008753
ABSTRACT

BACKGROUND:

The reduction of the chromosome number from 48 in the Great Apes to 46 in modern humans is thought to result from the end-to-end fusion of two ancestral non-human primate chromosomes forming the human chromosome 2 (HSA2). Genomic signatures of this event are the presence of inverted telomeric repeats at the HSA2 fusion site and a block of degenerate satellite sequences that mark the remnants of the ancestral centromere. It has been estimated that this fusion arose up to 4.5 million years ago (Mya).

RESULTS:

We have developed an enhanced algorithm for the detection and efficient counting of the locally over-represented weak-to-strong (AT to GC) substitutions. By analyzing the enrichment of these substitutions around the fusion site of HSA2 we estimated its formation time at 0.9 Mya with a 95% confidence interval of 0.4-1.5 Mya. Additionally, based on the statistics derived from our algorithm, we have reconstructed the evolutionary distances among the Great Apes (Hominoidea).

CONCLUSIONS:

Our results shed light on the HSA2 fusion formation and provide a novel computational alternative for the estimation of the speciation chronology.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hominidae / Evolução Molecular Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hominidae / Evolução Molecular Limite: Animals / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article