Complete mutation analysis panel of the 39 human HOX genes

Kenjiro Kosaki, Rika Kosaki, Takao Takahashi, Hiroshi Yoshihashi, Takao Takahashi, Katsumi Sasaki, Kenjiro Kosaki, Masaru Tomita, Nobutake Matsuo

Research output: Contribution to journalArticle

17 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)50-62
Number of pages13
JournalTeratology
Volume65
Issue number2
DOIs
Publication statusPublished - 2002

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Genes
Mutation
Genome
Computational Biology
Bioinformatics
Homeobox Genes
Medical Genetics
Transcription Factors
Embryonic Structures
Complementary DNA
Phenotype
Polymerase Chain Reaction
DNA
Research

ASJC Scopus subject areas

  • Developmental Biology
  • Embryology
  • Toxicology
  • Health, Toxicology and Mutagenesis

Cite this

Kosaki, K., Kosaki, R., Takahashi, T., Yoshihashi, H., Takahashi, T., Sasaki, K., ... Matsuo, N. (2002). Complete mutation analysis panel of the 39 human HOX genes. Teratology, 65(2), 50-62. https://doi.org/10.1002/tera.10009

Complete mutation analysis panel of the 39 human HOX genes. / Kosaki, Kenjiro; Kosaki, Rika; Takahashi, Takao; Yoshihashi, Hiroshi; Takahashi, Takao; Sasaki, Katsumi; Kosaki, Kenjiro; Tomita, Masaru; Matsuo, Nobutake.

In: Teratology, Vol. 65, No. 2, 2002, p. 50-62.

Research output: Contribution to journalArticle

Kosaki, K, Kosaki, R, Takahashi, T, Yoshihashi, H, Takahashi, T, Sasaki, K, Kosaki, K, Tomita, M & Matsuo, N 2002, 'Complete mutation analysis panel of the 39 human HOX genes', Teratology, vol. 65, no. 2, pp. 50-62. https://doi.org/10.1002/tera.10009
Kosaki K, Kosaki R, Takahashi T, Yoshihashi H, Takahashi T, Sasaki K et al. Complete mutation analysis panel of the 39 human HOX genes. Teratology. 2002;65(2):50-62. https://doi.org/10.1002/tera.10009
Kosaki, Kenjiro ; Kosaki, Rika ; Takahashi, Takao ; Yoshihashi, Hiroshi ; Takahashi, Takao ; Sasaki, Katsumi ; Kosaki, Kenjiro ; Tomita, Masaru ; Matsuo, Nobutake. / Complete mutation analysis panel of the 39 human HOX genes. In: Teratology. 2002 ; Vol. 65, No. 2. pp. 50-62.
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