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Human and Murine Ptx1/Ptx1 Gene Maps to the Region For Treacher-Collins-Syndrome

  1. Author:
    Crawford, M. J.
    Lanctot, C.
    Tremblay, J. J.
    Jenkins, N.
    Gilbert, D.
    Copeland, N.
    Beatty, B.
    Drouin, J.

  2. Author Address

    Drouin J INST RECH CLIN MONTREAL GENET MOL LAB 110 AVE PINS OUEST MONTREAL PQ H2W 1R7 CANADA INST RECH CLIN MONTREAL GENET MOL LAB MONTREAL PQ H2W 1R7 CANADA NCI FREDERICK CANC RES & DEV CTR ABL BASIC RES PROGRAM MAMMALIAN GENET LAB FREDERICK, MD 21702 USA HOSP SICK CHILDREN TORONTO ON M5G 1X8 CANADA
    1. Year: 1997
  2. Journal: Mammalian Genome
    1. 8
    2. 11
    3. Pages: 841-845
  4. Type of Article: Article
  1. 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. [References: 27]

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