Publications by authors named "Taizo Horikoshi"
Intergenic splicing, the joining of exons from separate genes, has been observed only rarely in mammals. While the matrilin (MATN) and lysosomal-associated protein transmembrane (LAPTM) genes comprise distinct gene families, we have demonstrated intergenic splicing between two sets of family genes, the matrilin-3 (MATN3) and lysosomal-associated protein transmembrane 4alpha (LAPTM4A), and the matrilin-2 (MATN2) and lysosomal-associated protein transmembrane 4beta (LAPTM4B). The expression pattern and sub-cellular localization of the MATN-LAPTM hybrid transcripts differ from those of the original genes, suggesting unique functions for the products.
View Article and Find Full Text PDFResearch to date has identified several genes that are implicated in the etiology of ossification of the posterior longitudinal ligament of the spine (OPLL); however, their pathogenetic relevance remains obscure. The aim of this study is to identify susceptibility genes for OPLL through a large-scale case-control association study and to re-examine previously reported associations. A total of 109 single nucleotide polymorphisms (SNPs) in 35 candidate genes were genotyped for 711 sporadic OPLL patients and 896 controls.
View Article and Find Full Text PDFArticle Synopsis
- Preaxial polydactyly (PPD) is a common limb malformation in humans linked to disruptions in the Shh gene which is responsible for digit formation.
- Researchers discovered a translocation breakpoint in a human PPD patient and a transgenic insertion in a polydactylous mouse mutant called sasquatch (Ssq), both affecting the LMBR1/Lmbr1 gene.
- The study indicates that the Lmbr1 gene itself is not responsible for the polydactyly phenotype; rather, the mutations disrupt a regulatory element that controls the expression of Shh, suggesting that this regulator could be crucial in human PPD cases.