Revised time estimation of the ancestral human chromosome 2 fusion.
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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Hominidae
/
Evolução Molecular
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article