title: Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.
abstract: Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal localization of mouse Ptx1, and the cloning, sequencing, and chromosomal localization of the human homolog PTX1. The putative encoded proteins share 100% homology in the homeodomain and are 88% and 97% conserved in the N- and C-termini respectively. Intron/exon boundaries are also conserved. Murine Ptx1 was localized, by interspecific backcrossing, to Chr 13 within 2.6 cM of Caml. The gene resides centrally on Chromosome (Chr) 13 in a region syntenic with human Chr 5q. Subsequent analysis by fluorescent in situ hybridization places the human gene, PTX1, on 5q31, a region associated with Treacher Collins Franceschetti Syndrome. Taken together with the craniofacial expression pattern of Ptx1 during early development, the localization of the gene in this chromosomal area is consistent with an involvement in Treacher Collins Franceschetti Syndrome.
authors.affiliation: Laboratoire de génétique moléculaire, Institut de recherches cliniques de Montréal (IRCM), Québec, Canada.
authors.forename: M J
authors.initials: MJ
authors.lastname: Crawford
authors.forename: C
authors.initials: C
authors.lastname: Lanctôt
authors.forename: J J
authors.initials: JJ
authors.lastname: Tremblay
authors.forename: N
authors.initials: N
authors.lastname: Jenkins
authors.forename: D
authors.initials: D
authors.lastname: Gilbert
authors.forename: N
authors.initials: N
authors.lastname: Copeland
authors.forename: B
authors.initials: B
authors.lastname: Beatty
authors.forename: J
authors.initials: J
authors.lastname: Drouin
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005314:Embryonic and Fetal Development / Q000235:genetics; D005260:Female; D015870:Gene Expression; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D051379:Mice / Q000235:genetics*; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D009115:Muridae / Q000235:genetics; D051761:Paired Box Transcription Factors; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology
chemical_list: D018398:Homeodomain Proteins; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C101485:homeobox protein PITX1