title: Gene expression in pharyngeal arch 1 during human embryonic development.
abstract: Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant genes, we analyzed transcription profiles of human pharyngeal arch 1 (PA1), a conserved embryonic structure that develops into the palate and jaw. Using microdissected, normal human craniofacial structures, we constructed 12 SAGE (serial analysis of gene expression) libraries and sequenced 606 532 tags. We also performed Affymetrix microarray analysis on 25 craniofacial targets. Our data revealed not only genes "enriched" or differentially expressed in PA1 during fourth and fifth week of human development, but also 6927 genes newly identified to be expressed in human PA1. Many of these genes are involved in biosynthetic processes and have binding function and catalytic activity. We compared expression profiles of human genes with those of mouse homologs to look for genes more specific to human craniofacial development and found 766 genes expressed in human PA1, but not in mouse PA1. We also identified 1408 genes that were expressed in mouse as well as human PA1 and could be useful in creating mouse models for human conditions. We confirmed conservation of some human PA1 expression patterns in mouse embryonic samples with whole mount in situ hybridization and real-time RT-PCR. This comprehensive approach to expression profiling gives insights into the early development of the craniofacial region and provides markers for developmental structures and candidate genes, including SET and CCT3, for diseases such as orofacial clefting and micrognathia.
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, 733 N. Broadway, Baltimore, MD 21205, USA.
authors.forename: Juanliang
authors.initials: J
authors.lastname: Cai
authors.forename: David
authors.initials: D
authors.lastname: Ash
authors.forename: Lori E
authors.initials: LE
authors.lastname: Kotch
authors.forename: Ethylin Wang
authors.initials: EW
authors.lastname: Jabs
authors.forename: Tania
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: Joelle
authors.initials: J
authors.lastname: Auge
authors.forename: Geraldine
authors.initials: G
authors.lastname: Mattei
authors.forename: Heather
authors.initials: H
authors.lastname: Etchevers
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Yulia
authors.initials: Y
authors.lastname: Korshunova
authors.forename: Rose
authors.initials: R
authors.lastname: Tidwell
authors.forename: David N
authors.initials: DN
authors.lastname: Messina
authors.forename: Julia B
authors.initials: JB
authors.lastname: Winston
authors.forename: Michael
authors.initials: M
authors.lastname: Lovett
mesh_terms: D000818:Animals; D001934:Branchial Region / Q000196:embryology*; D002384:Catalysis; D019465:Craniofacial Abnormalities / Q000235:genetics; D018076:DNA, Complementary / Q000378:metabolism; D004195:Disease Models, Animal; D047108:Embryonic Development; D018507:Gene Expression Regulation, Developmental; D015723:Gene Library; D006801:Humans; D017403:In Situ Hybridization; D051379:Mice; D020411:Oligonucleotide Array Sequence Analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013045:Species Specificity; D013997:Time Factors
chemical_list: D018076:DNA, Complementary