Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population
Shahzad M, Campos J, Tariq N, Serrano C, Yousaf R, Jiménez‐Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López‐Giráldez F, Genomics U, Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García‐Borrón J, Ahmed ZM. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. Pigment Cell & Melanoma Research 2015, 28: 730-735. PMID: 26197705, PMCID: PMC4609612, DOI: 10.1111/pcmr.12400.Peer-Reviewed Original ResearchConceptsPlasma membraneReduced plasma membrane expressionImpaired cell surface expressionPlasma membrane expressionGs protein-coupled receptorsProtein-coupled receptorsAgonist-induced signalingMelanocortin 1 receptorHeterologous HEK293 cellsCell surface expressionMC1R mutationsConfocal imaging studiesFunction allelesCausative allelesFunctional characterizationMutant allelesERK pathwayWhole-exome sequencingFrame deletionHEK293 cellsTyr298Pakistani familyHEK cellsMembrane expressionNonsense mutation