title: Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome.
abstract: Mutations in the serine/threonine kinase STK11 lead to Peutz-Jeghers syndrome (PJS) in a subset of affected individuals. Significant evidence for linkage to a second potential PJS disease locus on 19q13.4 has previously been described in one PJS family (PJS07). In the current study, we investigated this second locus for PJS gene candidates. We mapped the main candidate gene in this region, the gene for the transmembrane-type protein tyrosine phosphatase H (PTPRH), within 15 kb telomeric to the marker D19S880. We determined its genomic structure, and performed mutation analysis of all exons and the exon-intron junctions of the PTPRH gene in the PJS07 family. No disease causing mutation was identified in PTPRH in affected individuals, suggesting the existence of an as yet not identified gene on 19q13.4 as a second PJS gene.
authors: Department of Cell Biology, Harvard Medical School, Boston MA 02115, USA. amarneros@hms.harvard.edu
authors: A G
authors: AG
authors: Marneros
authors: H
authors: H
authors: Mehenni
authors: E
authors: E
authors: Reichenberger
authors: S E
authors: SE
authors: Antonarakis
authors: T
authors: T
authors: Krieg
authors: B R
authors: BR
authors: Olsen
mesh_terms: D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D020451:Contig Mapping; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3; D016324:Sequence Tagged Sites
chemical_list: D005819:Genetic Markers; D022821:RNA Splice Sites; C431695:PTPRH protein, human; D017027:Protein Tyrosine Phosphatases; D054631:Receptor-Like Protein Tyrosine Phosphatases, Class 3