title: Embryonic expression of EphA receptor genes in mice supports their candidacy for involvement in cleft lip and palate.
abstract: BACKGROUND
  Eph receptors, comprising the A- and B-subfamilies, are the largest family of receptor tyrosine kinases in the mammalian genome, and their function is critical for morphogenesis in a variety of contexts. Whereas signaling through B-type Ephs has been demonstrated to play a role in cleft lip and palate (CL/P), the involvement of A-type Ephs has not been examined in this context notwithstanding a recent genome-wide association study that identified the EPHA3 locus as a candidate for non-syndromic CL/P.
  
  
  RESULTS
  Here, we present a systematic analysis of the gene expression patterns for the nine EphA receptors at progressive stages of mouse development and find that EphA3, EphA4, and EphA7 exhibit restricted overlapping patterns of expression during palate development. We find that homozygous mutation of EphA3 or compound homozygous mutation of EphA3 and EphA4 in mice does not result in defective midfacial development, supporting the possibility of redundant function with EphA7. We also document previously undescribed expression patterns in other tissues of the craniofacial complex including the lacrimal duct and salivary glands.
  
  
  CONCLUSIONS
  Together, these results are consistent with the hypothesis that mutations in EPHA family genes may cause CL/P and also suggest that functional redundancy between family members may be at play.
authors: Department of Cell and Tissue Biology, Program in Craniofacial and Mesenchymal Biology and Institute for Human Genetics, University of California, San Francisco, California; Department of Molecular and Cell Biology, University of California, Berkeley, California.
authors: Puja
authors: P
authors: Agrawal
authors: Michael
authors: M
authors: Wang
authors: Seungil
authors: S
authors: Kim
authors: Ace E
authors: AE
authors: Lewis
authors: Jeffrey O
authors: JO
authors: Bush
mesh_terms: D000818:Animals; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental / Q000502:physiology*; D006652:Histological Techniques; D051379:Mice; D018345:Mice, Knockout; D009024:Morphogenesis / Q000502:physiology*; D010159:Palate / Q000196:embryology*; D036081:Receptors, Eph Family / Q000378:metabolism*
chemical_list: D036081:Receptors, Eph Family
keywords: Eph; craniofrontonasal syndrome; ephrin; lip; palate