High population frequencies of MICA copy number variations originate from independent recombination events

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragen

Beitragende

  • Anja Klussmeier - , DKMS Life Science Lab gGmbH (Autor:in)
  • Kathrin Putke - , DKMS Life Science Lab gGmbH (Autor:in)
  • Steffen Klasberg - , DKMS Life Science Lab gGmbH (Autor:in)
  • Maja Kohler - , DKMS Life Science Lab gGmbH (Autor:in)
  • Jürgen Sauter - , DKMS Clinical Trials Unit gGmbH (Autor:in)
  • Daniel Schefzyk - , DKMS Clinical Trials Unit gGmbH (Autor:in)
  • Gerhard Schöfl - , DKMS Life Science Lab gGmbH (Autor:in)
  • Carolin Massalski - , DKMS Life Science Lab gGmbH (Autor:in)
  • Gesine Schäfer - , DKMS Life Science Lab gGmbH (Autor:in)
  • Alexander H Schmidt - , DKMS Life Science Lab gGmbH (Autor:in)
  • Axel Roers - , Institut für Immunologie, Medizinische Fakultät Carl Gustav Carus Dresden, Technische Universität Dresden, Universitätsklinikum Heidelberg (Autor:in)
  • Vinzenz Lange - , DKMS Life Science Lab gGmbH (Autor:in)

Abstract

MICA is a stress-induced ligand of the NKG2D receptor that stimulates NK and T cell responses and was identified as a key determinant of anti-tumor immunity. The MICA gene is located inside the MHC complex and is in strong linkage disequilibrium with HLA-B. While an HLA-B*48-linked MICA deletion-haplotype was previously described in Asian populations, little is known about other MICA copy number variations. Here, we report the genotyping of more than two million individuals revealing high frequencies of MICA duplications (1%) and MICA deletions (0.4%). Their prevalence differs between ethnic groups and can rise to 2.8% (Croatia) and 9.2% (Mexico), respectively. Targeted sequencing of more than 70 samples indicates that these copy number variations originate from independent nonallelic homologous recombination events between segmental duplications upstream of MICA and MICB. Overall, our data warrant further investigation of disease associations and consideration of MICA copy number data in oncological study protocols.

Details

OriginalspracheEnglisch
Aufsatznummer1297589
FachzeitschriftFrontiers in immunology
Jahrgang14
PublikationsstatusVeröffentlicht - 2023
Peer-Review-StatusNein

Externe IDs

PubMedCentral PMC10684724
Scopus 85178051563

Schlagworte

Schlagwörter

  • DNA Copy Number Variations, Gene Frequency, HLA-B Antigens/genetics, Histocompatibility Antigens Class I/genetics, Humans, Polymorphism, Genetic

Bibliotheksschlagworte