The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse.
Document Type
Article
Publication Date
10-1-2021
Publication Title
Developmental dynamics : an official publication of the American Association of Anatomists
Keywords
JMG
JAX Source
Dev Dyn 2021 Oct; 250(10):1463-1476
Volume
250
Issue
10
First Page
1463
Last Page
1476
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.
Recommended Citation
Paul B,
Palmer K,
Rhea L,
Carlson M,
Sharp J,
Pratt CH,
Murray S,
Dunnwald M.
The Mafb cleft-associated variant H131Q is not required for palatogenesis in the mouse. Dev Dyn 2021 Oct; 250(10):1463-1476