Expression pattern of Kmt2d in murine craniofacial tissues

Gene Expr Patterns. 2019 Dec:34:119060. doi: 10.1016/j.gep.2019.119060. Epub 2019 Jun 19.

Abstract

Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability. However, the expression pattern of Kmt2d has not been fully elucidated. In the present study we examined the expression pattern of Kmt2d at multiple stages of embryo development in mice, with a focus on the craniofacial tissues. Our in situ hybridization results showed that Kmt2d mRNA is expressed in the developing calvarial osteoblasts, epithelia and neural tissues. Such an expression pattern is in line with the phenotypes of Kabuki syndrome, suggesting that Kmt2d plays an intrinsic role in normal development and homeostasis of these craniofacial tissues.

Keywords: Calvarial bones; In situ hybridization; Kmt2d; Mouse.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cell Differentiation
  • Epithelial Cells / metabolism
  • Female
  • Gene Expression Regulation, Developmental / genetics
  • Histone-Lysine N-Methyltransferase / genetics*
  • Histone-Lysine N-Methyltransferase / metabolism
  • In Situ Hybridization
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Myeloid-Lymphoid Leukemia Protein / metabolism
  • Neurons / metabolism
  • Nuclear Proteins / genetics
  • Osteoblasts / metabolism
  • Skull / embryology*
  • Skull / metabolism
  • Transcriptome / genetics

Substances

  • Nuclear Proteins
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • Kmt2b protein, mouse