NDLI: Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome

Content Provider	Springer Nature Link
Author	Crawford, Michael J. Lanctôt, Christian Tremblay, Jacques J. Jenkins, Nancy Gilbert, Debra Copeland, Neal Beatty, Barbara Drouin, Jacques
Copyright Year	1997
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 Ptxl, 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.
Starting Page	841
Ending Page	845
Page Count	5
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	8
Issue Number	11
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cell Biology Anatomy Zoology
Content Type	Text
Resource Type	Article
Subject	Genetics

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