Human PRRX1 and PRRX2 genes: Cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Russell A. Norris, Karen K. Scott, Clara S. Moore, Gail Stetten, Cuyler R. Brown, Ethylin Wang Jabs, Eric A. Wulfsberg, Jack C Yu, Michael J. Kern

Research output: Contribution to journalArticle

36 Citations (Scopus)

Abstract

In this study, we extend our examination of the function of the Prrx1 (a.k.a. Mhox, Prx1, K-2, and Pmx1) as well as Prrx2 (a.k.a. S8 and Prx2) genes by characterizing the expression of the human orthologs and their potential for causing specific human malformations. The expression pattern of PRRX2 and its close relative, PRRX1, were analyzed in human tissue by RT-PCR. Although the expression of these human genes is similar to their mouse orthologs, there are notable differences in expression. PRRX2 was detected in the human kidney and lung, whereas in mice and chickens neither of these tissues has been reported to express Prrx2. For PRRX1 the expression pattern was quite similar to other vertebrates, but the ratio of the two isoforms was reversed. To begin the search for the gene-disease connection, both genes were mapped to human chromosomes by FISH. The PRRX1 locus maps to 1q23, whereas the PRRX2 locus maps to 9q34.1. This localization, along with the recently described phenotypes of the gene-targeted Prrxx1, Prrx2 and double mutant mice, enabled us to search the human disease databases for similar malformations. This examination suggested that mutations at the PRRX1 and/or PRRX2 loci could result in Nager Acrofacial Dysostosis (NAFD) syndrome. We obtained DNA samples from eight patients with NAFD, as well as two patients with Miller syndrome, and analyzed them for mutations in the PRRX1 and PRRX2 genes. The data excludes mutations in the presumed coding sequences of these genes from causing NAFD.

Original languageEnglish (US)
Pages (from-to)1000-1005
Number of pages6
JournalMammalian Genome
Volume11
Issue number11
DOIs
StatePublished - Jan 1 2000

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Organism Cloning
Gene Expression
Genes
Mutation
Human Chromosomes
Vertebrates
Nager type Acrofacial dysostosis
Chickens
Protein Isoforms
Databases
Phenotype
Kidney
Polymerase Chain Reaction
Lung
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Norris, R. A., Scott, K. K., Moore, C. S., Stetten, G., Brown, C. R., Jabs, E. W., ... Kern, M. J. (2000). Human PRRX1 and PRRX2 genes: Cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mammalian Genome, 11(11), 1000-1005. https://doi.org/10.1007/s003350010193

Human PRRX1 and PRRX2 genes : Cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. / Norris, Russell A.; Scott, Karen K.; Moore, Clara S.; Stetten, Gail; Brown, Cuyler R.; Jabs, Ethylin Wang; Wulfsberg, Eric A.; Yu, Jack C; Kern, Michael J.

In: Mammalian Genome, Vol. 11, No. 11, 01.01.2000, p. 1000-1005.

Research output: Contribution to journalArticle

Norris, RA, Scott, KK, Moore, CS, Stetten, G, Brown, CR, Jabs, EW, Wulfsberg, EA, Yu, JC & Kern, MJ 2000, 'Human PRRX1 and PRRX2 genes: Cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome', Mammalian Genome, vol. 11, no. 11, pp. 1000-1005. https://doi.org/10.1007/s003350010193
Norris, Russell A. ; Scott, Karen K. ; Moore, Clara S. ; Stetten, Gail ; Brown, Cuyler R. ; Jabs, Ethylin Wang ; Wulfsberg, Eric A. ; Yu, Jack C ; Kern, Michael J. / Human PRRX1 and PRRX2 genes : Cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. In: Mammalian Genome. 2000 ; Vol. 11, No. 11. pp. 1000-1005.
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