Ashleigh Howes, Clare Rogerson, Nikolai Belyaev, Tina Karagyozova, Radu Rapiteanu, Ricardo Fradique, Nicola Pellicciotta, David Mayhew, Catherine Hurd, Stefania Crotta, Tanya Singh, Kevin Dingwell, Anniek Myatt, Navot Arad, Hikmatyar Hasan, Hielke Bijlsma, Aliza Panjwani, Vinaya Vijayan, George Young, Angela Bridges, Sebastien Petit-Frere, Joanna Betts, Chris Larminie, James C Smith, Edith M Hessel, David Michalovich, Louise Walport, Pietro Cicuta, Andrew J Powell, Soren Beinke, Andreas Wack
SNPs in the FAM13A locus are amongst the most commonly reported risk alleles associated with chronic obstructive pulmonary disease (COPD) and other respiratory diseases, however the physiological role of FAM13A is unclear. In humans, two major protein isoforms are expressed at the FAM13A locus: 'long' and 'short', but their functions remain unknown, partly due to a lack of isoform conservation in mice. We performed in-depth characterisation of organotypic primary human airway epithelial cell subsets and show that multiciliated cells predominantly express the FAM13A long isoform containing a putative N-terminal Rho GTPase activating protein (RhoGAP) domain...
May 1, 2024: American Journal of Respiratory Cell and Molecular Biology