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<p>The human chromosome 2 arose around 1 million years ago from a telomeric fusion of the two short arms of the homologous autosomes in great apes and common hominoid ancestor of <i>Homo sapiens</i>. Being a bicentromeric chromosome, it exhibits instability to segregation/recombination of DNA, leading to an increased mutational risk. Historical evidence of osteometabolic and adipose mass disorders ensuing from these mutations is traced back to the first millennium B.C. up to the 21st century. This suggests that chromosome 2 contributes to the evolutionary stability of the body masses (free fat mass and fat mass) of each individual, acting in concert with other autosomes like 15, 21, and 22, which give rise to well known genetic dysmetabolic syndromes. Collectively, during the last million years the genic loci 2q31-37 and 2p13-25 were likely able to ensure stabilisation of the evolutionary programme for body development in <i>Homo sapiens</i>, confirming that chromosome 2 exerted a critical regulation for speciation of modern humans.</p>

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L’incredibile cromosoma 2 e il suo ruolo nei disordini osteometabolici

  • 期刊论文

  • 发表日期：

    2025年4月30日

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  • Roberto Toni,
  • Fulvio Barbaro,
  • Giusy Di Conza,
  • Francesca Pia Quartulli,
  • Salvatore Mosca,
  • Massimiliano Mosca,
  • Simone Sprio,
  • Anna Tampieri

摘要

The human chromosome 2 arose around 1 million years ago from a telomeric fusion of the two short arms of the homologous autosomes in great apes and common hominoid ancestor of Homo sapiens. Being a bicentromeric chromosome, it exhibits instability to segregation/recombination of DNA, leading to an increased mutational risk. Historical evidence of osteometabolic and adipose mass disorders ensuing from these mutations is traced back to the first millennium B.C. up to the 21st century. This suggests that chromosome 2 contributes to the evolutionary stability of the body masses (free fat mass and fat mass) of each individual, acting in concert with other autosomes like 15, 21, and 22, which give rise to well known genetic dysmetabolic syndromes. Collectively, during the last million years the genic loci 2q31-37 and 2p13-25 were likely able to ensure stabilisation of the evolutionary programme for body development in Homo sapiens, confirming that chromosome 2 exerted a critical regulation for speciation of modern humans.