Title

The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.

Document Type

Article

Publication Date

3-14-2021

Publication Title

Developmental dynamics : an official publication of the American Association of Anatomists

Keywords

JMG

JAX Source

Dev Dyn 2021 Mar 14 online ahead of print

ISSN

1097-0177

PMID

33715275

DOI

https://doi.org/10.1002/dvdy.327

Abstract

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

RESULTS: 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.

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