<i>Cis</i> -acting mutation affecting <i>GJA5</i> transcription is underlying the <i>Melanotic</i> within-feather pigmentation pattern in chickens
Jingyi Li, Mi‐Ok Lee, Junfeng Chen, Brian W. Davis, Benjamin J. Dorshorst, P.B. Siegel, Masafumi Inaba, Ting‐Xin Jiang, Cheng‐Ming Chuong, Leif Andersson
Abstract
Significance The molecular mechanisms underlying pigmentation patterns in animals is to a large extent an unresolved mystery in biology. For example, compared with mammals, birds show a stunning diversity in pigmentation patterns. This study advances the knowledge concerning the mechanisms creating periodic pigmentation patterns in individual feathers. We show that a mutation upstream of GJA5 encoding a gap-junction protein is causing the Melanotic phenotype in domestic chickens. Melanotic affects within-feather pigmentation patterns by enhancing the contrast between dark- and light-colored regions in the feather. The result implies that cell–cell communications between melanocytes and other cells in the feather follicle play a critical role for pattern formation.