The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.
Developmental dynamics : an official publication of the American Association of Anatomists
Dev Dyn 2021 Oct; 250(10):1463-1476
BACKGROUND: Orofacial clefts (OFCs) are common birth defects with complex etiology. Genome wide association studies for OFC have identified SNPs in and near MAFB. MAFB is a transcription factor critical for structural development of digits, kidneys, skin, and brain. MAFB is also expressed in the craniofacial region. Previous sequencing of MAFB in a Filipino population revealed a novel missense variant significantly associated with an increased risk for OFC. This MAFB variant, leading to the amino acid change H131Q, was knocked into the mouse Mafb, resulting in the Mafb
CONCLUSIONS: Mafb is dispensable for murine palatogenesis in vivo, and the cleft-associated variant H131Q, despite its lack of morphogenic effect, altered the expression of Arhgap29 in a cell-dependent context.
Paul, Brian J; Palmer, Kristina; Rhea, Lindsey; Carlson, Melissa; Sharp, Jocelyn; Pratt, C Herbert; Murray, Stephen A; and Dunnwald, Martine, "The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse." (2021). Faculty Research 2021. 214.