The Chicken Frizzle Feather Is Due to an Alpha-Keratin (KRT75) Mutation That Causes a Defective Rachis

July 2012 in “ PLoS Genetics ”

Chen Siang Ng, Ping Wu, John Foley, Anne Foley, Merry‐Lynn McDonald, Wen‐Tau Juan, Chih-Jen Huang, Yu-Ting Lai, Wen-Sui Lo, Chih-Feng Chen, Suzanne M. Leal, Huanmin Zhang, Randall B. Widelitz, Pragna I. Patel, Wen‐Hsiung Li, Cheng‐Ming Chuong

α-keratin KRT75 keratin dimerization autosomal incomplete dominant retroviral-mediated expression feather morphology

The study identified a mutation in the α-keratin gene KRT75 as the cause of the frizzle feather phenotype in chickens, characterized by a defective rachis and altered feather structure. This mutation involved a 69-bp in-frame deletion, leading to protein dysfunction and affecting keratin dimerization. The frizzle gene was transmitted in an autosomal incomplete dominant mode. Experimental approaches, including retroviral-mediated expression and misexpression studies, confirmed the mutation's impact on feather morphology, highlighting the role of α-keratins in feather development. The research suggested potential physiological effects of the mutation and emphasized the importance of genetic approaches in understanding feather morphology and evolution.

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