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

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 MafbH131Q allele. The MafbH131Q construct was engineered to allow for deletion of Mafb (“Mafbdel”).

[1]  C. Simons,et al.  MAFB modulates the maturation of lymphatic vascular networks in mice , 2020, Developmental dynamics : an official publication of the American Association of Anatomists.

[2]  Shijie Tang,et al.  Association between 20q12 rs13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis , 2020, BMC Oral Health.

[3]  Eduardo Pons-Fuster López,et al.  Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis , 2019, International journal of environmental research and public health.

[4]  Stefan Schoenfelder,et al.  Long-range enhancer–promoter contacts in gene expression control , 2019, Nature Reviews Genetics.

[5]  J. Rubenstein,et al.  Mafb and c-Maf Have Prenatal Compensatory and Postnatal Antagonistic Roles in Cortical Interneuron Fate and Function , 2019, Cell reports.

[6]  Kunio Inoue,et al.  Transcriptome profiling of the cardiac neural crest reveals a critical role for MafB. , 2018, Developmental biology.

[7]  Sarah C. Nelson,et al.  Genomic analyses in African populations identify novel risk loci for cleft palate , 2018, Human molecular genetics.

[8]  Shuyuan Jiang,et al.  Family-based study of association between MAFB gene polymorphisms and NSCL/P among Western Han Chinese population. , 2018, Advances in clinical and experimental medicine : official organ Wroclaw Medical University.

[9]  F. Matsuda,et al.  A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. , 2018, Kidney international.

[10]  S. Murray,et al.  ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions , 2017, Journal of dental research.

[11]  Y. Lan,et al.  Molecular and Cellular Mechanisms of Palate Development , 2017, Journal of dental research.

[12]  A. Walter,et al.  IRF6 and SPRY4 Signaling Interact in Periderm Development , 2017, Journal of dental research.

[13]  K. Kataoka,et al.  Ectopic expression of the transcription factor MafB in basal keratinocytes induces hyperproliferation and perturbs epidermal homeostasis , 2017, Experimental dermatology.

[14]  R. T. Lie,et al.  A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts , 2017, Journal of dental research.

[15]  C. Lim,et al.  YAP Regulates Actin Dynamics through ARHGAP29 and Promotes Metastasis. , 2017, Cell reports.

[16]  Y. Shi,et al.  A Convenient Cas9-based Conditional Knockout Strategy for Simultaneously Targeting Multiple Genes in Mouse , 2017, Scientific Reports.

[17]  Elizabeth J. Leslie,et al.  Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting , 2017, Nature Communications.

[18]  B. Hallgrímsson,et al.  The Interaction of Genetic Background and Mutational Effects in Regulation of Mouse Craniofacial Shape , 2017, G3: Genes, Genomes, Genetics.

[19]  Kenneth L. Jones,et al.  MEMO1 drives cranial endochondral ossification and palatogenesis. , 2016, Developmental biology.

[20]  C. Summers,et al.  Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. , 2016, American journal of human genetics.

[21]  R. T. Lie,et al.  A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. , 2016, American journal of human genetics.

[22]  R. T. Lie,et al.  A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. , 2016, Human molecular genetics.

[23]  Masataka Nakamura,et al.  Molecular basis of cleft palates in mice. , 2015, World journal of biological chemistry.

[24]  M. Kretz,et al.  A LncRNA-MAF:MAFB transcription factor network regulates epidermal differentiation. , 2015, Developmental cell.

[25]  Daniel F Lusche,et al.  Interferon regulatory factor 6 regulates keratinocyte migration , 2014, Journal of Cell Science.

[26]  Nuno A. Fonseca,et al.  Long-range enhancers regulating Myc expression are required for normal facial morphogenesis , 2014, Nature Genetics.

[27]  L. Faivre,et al.  The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability , 2013, American journal of medical genetics. Part A.

[28]  M. Marazita,et al.  Genetics of cleft lip and cleft palate , 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

[29]  T. Beaty,et al.  Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P) , 2013, American journal of medical genetics. Part A.

[30]  T. Beaty,et al.  Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. , 2012, Birth defects research. Part A, Clinical and molecular teratology.

[31]  S. Cichon,et al.  Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci , 2012, Nature Genetics.

[32]  T. Beaty,et al.  Cleft lip and palate: understanding genetic and environmental influences , 2011, Nature Reviews Genetics.

[33]  Holger Schwender,et al.  A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 , 2010, Nature Genetics.

[34]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[35]  Ana María López,et al.  FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. , 2009, Human molecular genetics.

[36]  Bernhard Horsthemke,et al.  Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 , 2009, Nature Genetics.

[37]  M. Barron,et al.  The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice , 2008, Human molecular genetics.

[38]  I. Artner,et al.  MafB is required for islet β cell maturation , 2007, Proceedings of the National Academy of Sciences.

[39]  M. Lovett,et al.  Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6) , 2006, Nature Genetics.

[40]  Laurent Vanhille,et al.  Development of Macrophages with Altered Actin Organization in the Absence of MafB , 2006, Molecular and Cellular Biology.

[41]  J. D. Engel,et al.  MafB Is Essential for Renal Development and F4/80 Expression in Macrophages , 2006, Molecular and Cellular Biology.

[42]  M. Dixon,et al.  Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein treacle , 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

[43]  D. Godt,et al.  The large Maf factor Traffic Jam controls gonad morphogenesis in Drosophila , 2003, Nature Cell Biology.

[44]  T. Graf,et al.  MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth , 2003, Nature Neuroscience.

[45]  G. Barsh,et al.  The mouse Kreisler (Krml1/MafB) segmentation gene is required for differentiation of glomerular visceral epithelial cells. , 2002, Developmental biology.

[46]  R. Krumlauf,et al.  Segmental regulation of Hoxb-3 by kreisler , 1997, Nature.

[47]  M. Ferguson,et al.  Transforming growth factor–β3 is required for secondary palate fusion , 1995, Nature Genetics.

[48]  G. Barsh,et al.  The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor , 1994, Cell.

[49]  M. Snead,et al.  Maintenance of amelogenin gene expression by transformed epithelial cells of mouse enamel organ. , 1992, Archives of oral biology.

[50]  P. Hertwig.  Neue Mutationen und Koppelungsgruppen bei der Hausmaus , 1942, Zeitschrift für Induktive Abstammungs- und Vererbungslehre.

[51]  J. Jayaraman.  Association between 20 q 12 rs 13041247 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate : a meta-analysis , 2020 .

[52]  L. Wang,et al.  Genetic variants of 20q12 contributed to non-syndromic orofacial clefts susceptibility. , 2017, Oral diseases.

[53]  Hong Wang,et al.  A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA 4 , 2010 .

[54]  Ana María López,et al.  FOXE 1 association with both isolated cleft lip with or without cleft palate , and isolated cleft palate , 2009 .