ABSTRACT
In a previous study we reported the isolation of the human synovial sarcoma-associated t(X;18) breakpoint. As a result of this translocation, the SYT gene on chromosome 18 fuses to either the SSX1 or the SSX2 gene on the X chromosome, depending on the exact location of the breakpoint within band Xp11.2. As yet, little is known about the modes of action of the SYT and SSX genes and their respective (fusion) products. Here we report the isolation of the mouse homolog of SYT, its full length cDNA sequence, its chromosomal localization, and its spatio-temporal expression patterns in adult and embryonic tissues. The SYT gene was found to be well conserved during evolution and is part of a region of synteny between the human and mouse chromosomes 18. In early embryogenesis, Syt is ubiquitously expressed. In later stages, the expression becomes confined to cartilage tissues, specific neuronal cells and some epithelial derived tissues. In mature testis, expression was specifically observed in primary spermatocytes.
Subject(s)
DNA, Complementary/genetics , DNA, Complementary/isolation & purification , Proteins/genetics , Sarcoma, Synovial/genetics , Amino Acid Sequence , Animals , Base Sequence , Conserved Sequence , DNA Primers , Embryo, Mammalian , Humans , Male , Mice , Molecular Sequence Data , Polymerase Chain Reaction , Proto-Oncogene Proteins , Repressor Proteins , Sarcoma, Synovial/chemistry , src Homology DomainsABSTRACT
In course of the molecular characterization of a human extragonadal germ cell tumor (EGCT)-associated chromosomal translocation, we identified YACs and cosmids from the 11q13 region. The endclone of one of these YACs appeared to contain a stretch of DNA homologous to part of the human phosphatidylinositol-specific phospholipase C beta 3 gene (PLCB3). Since we considered PLCB3 a candidate gene for these EGCTs, we set out to clone the PLCB3 cDNA, from which the 5' end was still missing, and performed Northern and Southern blot analyses. The localization of PLCB3 to 11q13 was confirmed. In addition, we were able to exclude the gene from involvement in EGCT development.
