title: Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development.
abstract: Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology which is not fully elucidated yet. Epidemiological studies point to different etiologies in the cleft lip and palate subgroups, isolated cleft lip (CL), isolated cleft palate (CP) and combined cleft lip and palate (CLP). In order to understand the biological basis in these cleft lip and palate subgroups better we studied the expression profiles in human tissue from patients with CL/P. In each of the CL/P subgroups, samples were obtained from three patients and gene expression analysis was performed. Moreover, selected differentially expressed genes were analyzed by quantitative RT-PCR, and by immunohistochemical staining of craniofacial tissue from human embryos. Osteopontin (SPP1) and other immune related genes were significantly higher expressed in palate tissue from patients with CLP compared to CP and immunostaining in palatal shelves against SPP1, chemokine receptor 4 (CXCR4) and serglycin (PRG1) in human embryonic craniofacial tissue were positive, supporting a role for these genes in palatal development. However, gene expression profiles are subject to variations during growth and therefore we recommend that future gene expression in CL/P studies should use tissue from the correct embryonic time and place if possible, to overcome the biases in the presented study.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, Copenhagen, Denmark. lindapjakobsen@gmail.com
authors.forename: Linda P
authors.initials: LP
authors.lastname: Jakobsen
authors.forename: Rehannah
authors.initials: R
authors.lastname: Borup
authors.forename: Janni
authors.initials: J
authors.lastname: Vestergaard
authors.forename: Lars A
authors.initials: LA
authors.lastname: Larsen
authors.forename: Kasper
authors.initials: K
authors.lastname: Lage
authors.forename: Lisa Leth
authors.initials: LL
authors.lastname: Maroun
authors.forename: Inger
authors.initials: I
authors.lastname: Kjaer
authors.forename: Carsten U
authors.initials: CU
authors.lastname: Niemann
authors.forename: Mikael
authors.initials: M
authors.lastname: Andersen
authors.forename: Mary A
authors.initials: MA
authors.lastname: Knudsen
authors.forename: Kjeld
authors.initials: K
authors.lastname: Møllgård
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
mesh_terms: D002971:Cleft Lip / Q000235:genetics* / Q000276:immunology*; D002972:Cleft Palate / Q000196:embryology / Q000235:genetics* / Q000276:immunology*; D020869:Gene Expression Profiling; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D020411:Oligonucleotide Array Sequence Analysis; D053495:Osteopontin / Q000235:genetics* / Q000276:immunology; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D053495:Osteopontin