title: Complete mutation analysis panel of the 39 human HOX genes.
abstract: BACKGROUND
  The HOX gene family consists of highly conserved transcription factors that specify the identity of the body segments along the anteroposterior axis of the embryo. Because the phenotypes of mice with targeted disruptions of Hox genes resemble some patterns of human malformations, mutations in HOX genes have been expected to be associated with a significant number of human malformations. Thus far, however, mutations have been documented in only three of the 39 human HOX genes (HOXD13, HOXA13, and HOXA11) partly because current knowledge on the complete coding sequence and genome structure is limited to only 20 of the 39 human HOX genes.
  
  
  METHODS
  Taking advantage of the human and mouse draft genome sequences, we attempted to characterize the remaining 19 human HOX genes by bioinformatic analysis including phylogenetic footprinting, the probabilistic prediction method, and comparison of genomic sequences with the complete set of the human anonymous cDNA sequences.
  
  
  RESULTS
  We were able to determine the full coding sequences of 19 HOX genes and their genome structure and successfully designed a complete set of PCR primers to amplify the entire coding region of each of the 39 HOX genes from genomic DNA.
  
  
  CONCLUSIONS
  Our results indicate the usefulness of bioinformatic analysis of the draft genome sequences for clinically oriented research projects. It is hoped that the mutation panel provided here will serve as a launchpad for a new discourse on the genetic basis of human malformations.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@sc.itc.keio.ac.jp
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Taichi
authors.initials: T
authors.lastname: Suzuki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yoshihashi
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Katsumi
authors.initials: K
authors.lastname: Sasaki
authors.forename: Masaru
authors.initials: M
authors.lastname: Tomita
authors.forename: William
authors.initials: W
authors.lastname: McGinnis
authors.forename: Nobutake
authors.initials: N
authors.lastname: Matsuo
mesh_terms: D000818:Animals; D019295:Computational Biology; D003198:Computer Simulation; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D005801:Genes, Homeobox; D006801:Humans; D051379:Mice; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016415:Sequence Alignment