Potentially lethal cystic fibrosis gene variant in the orangutan

Jennifer L. Taylor-Cousar, Taylor A. Evans, Garry R. Cutting, Neeraj Sharma

Research output: Contribution to journalArticlepeer-review


A syndrome of chronic upper and lower airway disease leading to increased morbidity and mortality occurs primarily in captive orangutans. Similarities in symptoms to the inherited human respiratory disease, cystic fibrosis, led us to hypothesize that orangutan respiratory disease is a result of variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. We identified the nonsense variant, c.484A>T (p.Lys162X), in heterozygosity in an unaffected orangutan. Analysis of the pedigree of this orangutan confirmed that both his sire and deceased fetus also harbored the c.484A>T allele. An expression minigene harboring c.484A>T produced no full-length CFTR protein in HEK293 cells. Finally, the c.484A>T CFTR messenger RNA abundance was severely reduced in primary nasal epithelial cells of the orangutan indicating that c.484A>T (p.Lys162X) is potentially lethal. Genetic screening of the captive orangutan population could be used to prevent transmission of this potentially lethal variant, and thus aid in the conservation of this critically endangered species.

Original languageEnglish (US)
Article numbere23097
JournalAmerican journal of primatology
Issue number12
StatePublished - Dec 2021


  • Pongo
  • air sacculitis
  • bronchiectasis
  • cystic fibrosis transmembrane conductance regulator (CFTR) gene
  • respiratory

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Animal Science and Zoology


Dive into the research topics of 'Potentially lethal cystic fibrosis gene variant in the orangutan'. Together they form a unique fingerprint.

Cite this