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Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.

Annalisa Paparella1, Alberto L'Abbate2, Donato Palmisano1

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|November 14, 2023
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Segmental duplications drive human evolution and disease susceptibility. Complex rearrangements in the 15q11-q13 region, especially human-specific duplications, are linked to neurodevelopmental disorders.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Human Genetics

Background:

  • Segmental duplications are increasingly recognized for their role in human evolution and disease.
  • The 15q11-q13 locus is a known hotspot for copy number variation linked to neurodevelopmental disorders like Prader-Willi/Angelman syndromes, autism, and epilepsy.
  • These variations are mediated by complex segmental duplications that have evolved over time.

Purpose of the Study:

  • To investigate the evolutionary history and architectural changes of the 15q11-q13 region in humans and nonhuman primates.
  • To understand the role of segmental duplications in the instability of this genomic region.
  • To identify potential drivers of human-specific genomic expansions.

Main Methods:

  • Comparative genomic analysis of the 15q11-q13 locus across human and nonhuman primate species.
  • Reconstruction of the evolutionary history of inversions within the locus.
  • Characterization of segmental duplication structures and orientations.

Main Results:

  • Identified five distinct inversions that rearranged the 15q11-q13 region during primate evolution, primarily driven by segmental duplications.
  • Discovered human-specific gains of directly oriented duplications flanking the GOLGA and HERC segmental duplications.
  • Observed an increasing complexity of segmental duplication organization throughout evolution.

Conclusions:

  • The evolution of segmental duplications, particularly human-specific expansions, contributes to the instability of the 15q11-q13 region.
  • This increasing complexity of segmental duplication organization is associated with human susceptibility to recurrent disease-associated rearrangements.
  • Understanding these genomic dynamics is crucial for deciphering the genetic basis of human diseases.