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Gene causative of rothmund-thomson syndrome and gene productRelated Patent Categories: Chemistry: Molecular Biology And Microbiology, Measuring Or Testing Process Involving Enzymes Or Micro-organisms; Composition Or Test Strip Therefore; Processes Of Forming Such Composition Or Test Strip, Involving Nucleic AcidGene causative of rothmund-thomson syndrome and gene product description/claimsThe Patent Description & Claims data below is from USPTO Patent Application 20060240470, Gene causative of rothmund-thomson syndrome and gene product. Brief Patent Description - Full Patent Description - Patent Application Claims
TECHNICAL FIELD [0001] The present invention relates to a causative gene of Rothmund-Thomson syndrome, methods for the diagnosis of the disease, and diagnostic agents and therapeutic agents for the disease. BACKGROUND ART [0002] Rothmund-Thomson syndrome ((RTS); poikiloderma congenital) is a rare autosomal recessive hereditary disease, the pathophysiology and causative gene of which remain unrevealed. In 1868, a German ophthalmologist, August Rothmund, reported for the first time, 10 patients from an isolated village in Bayern showing crisis of poikiloderma at their youth and exhibiting at a high frequency juvenile cataracts (A. Rothmund, Arch. Ophthalmol. 4:159 (1887)). In 1936, an English ophthalmologist, Sidney Thomson, reported 3 patients with very similar poikiloderma (M. S. Thomson, Br. J. Dermatol. 48:221 (1936)). Two of the three had bone abnormality. Today, these two similar clinical cases are recognized as Rothmund-Thomson syndrome (RTS). Many cases in children of a variety of races affected with this disease have been reported worldwide, and previously over 200 cases of Rothmund-Thomson syndrome had been reported by Vennos et al. (E. M. Vennos et al., J. Am. Acad. Dermatol. 27:750 (1992); E. M. Vennos and W. D. James, Dermatol. Clinics. 13:143 (1995)). Although there is much clinical information on the Rothmund-Thomson syndrome, only clinical background is available for the diagnosis and no method for diagnosis at the laboratory level has been established. [0003] Clinical symptoms of Rothmund-Thomson syndrome include anetoderma and telangiectasia associated with mixed hyperchromic and hypochromic regions during neonatal period, juvenile canities and alopecia premature, juvenile cataracts, lower stature, congenital skeletal abnormality, and increased risk of mesenchymal tumor. Cytogenetic studies have shown that cells derived from patients with Rothmund-Thomson syndrome are genetically unstable and often exhibit chromosomal recombination, and acquired somatic cell mosaicism can be found in such cells (K. L. Yinget al., J. Med. Genet. 27:258 (1990); V. M. Der Kaloustian et al., Am. J. Med. Genet. 37:336 (1990); K. H. Orstavik et al., J. Med. Genet. 31:570 (1994); M. Miozzo et al., Int. J. Cancer 77:504 (1998), N. M. Lindor et al., Clin. Genet. 49:124 (1996)). Some of the cytogenetic and clinical findings, including genetic instability in patient cells, juvenile retardation of physical growth, skin abnormality, and high risk of tumorigenesis, are very similar to those findings in Werner syndrome and Bloom syndrome. [0004] Both of the causative genes of Werner syndrome and Bloom syndrome (abbreviated as WRN and BLM, respectively) belong to the RecQ DNA helicase family, and have been identified as homologues of the E. coli RecQ gene, which encodes the DNA helicase (K. Nakayama et al., Mol. Gen. Genet. 200:266 (1985)). In addition to WRN and BLM, SGS1 from budding yeast (S. cerevisiae) and rqh1.sup.+ from fission yeast (S. pombe) have been identified as eukaryotic homologues of E. coli RecQ DNA helicase. Mutations in the SGS1 gene are known to result in frequent homologous recombination and non-homologous recombination in budding yeast (S. cerevisiae) cells; likewise, rqh1.sup.+ mutations are known to result in frequent recombination in S phase in fission yeast (S. pombe) (S. Gangloff et al., Mol. Cell. Biol. 14:8391 (1994); P. M. Watt et al., Cell 81:253 (1995); E. Stewart et al., EMBO J. 16:2682 (1997)). [0005] Since a trisomy mosaicism of chromosome 8 was found in two of the three Rothmund-Thomson syndrome patients examined (N. M. Lindor et al., Clin. Genet. 49:124 (1996)), the causative gene of Rothmund-Thomson syndrome has been deduced to be located on chromosome 8. However, the causative gene has not yet been identified. DISCLOSURE OF THE INVENTION [0006] An objective of the present invention is to identify the causative gene of Rothmund-Thomson syndrome. In addition, another objective is to provide methods for the diagnosis of the disease as well as diagnostic and therapeutic agents for the disease. The inventors had previously isolated a cDNA corresponding to the RecQ4 helicase gene, belonging to the RecQ helicase gene family (Japanese Patent Application No. Hei 9-200387). The inventors considered the possibility that the RecQ4 helicase gene was the causative gene of Rothmund-Thomson syndrome; they therefore isolated the genomic DNA encoding RecQ4 helicase, and evaluated the presence of mutations in the RecQ4 helicase gene from patients with Rothmund-Thomson syndrome by using primers prepared based on the sequence information. The results showed that three of seven Rothmund-Thomson syndrome patients tested contained complexed heterozygotic mutations in the RecQ4 gene. Two of these patients were brothers, and the respective mutant alleles of the two had been inherited from the patients' family members. Aberrant transcription of RecQ4 was specifically found in cells derived from the patients. This suggested that the mutations in the RecQ4 gene result in genetic instability and are the cause of Rothmund-Thomson syndrome. In other words, the inventors have successfully demonstrated for the first time that the RecQ4 gene is the causative gene of Rothmund-Thomson syndrome. [0007] Further, from this fact, they have found that it is possible to diagnose Rothmund-Thomson syndrome by detecting mutations in the RecQ4 helicase gene; moreover, it is possible to treat the disease by compensating for the mutations. [0008] The present invention relates to the causative gene of Rothmund-Thomson syndrome, methods for the diagnosis of the disease, and diagnostic and therapeutic agents for the disease, and more specifically to: (1) a genomic DNA encoding RecQ4 helicase; (2) a vector comprising the genomic DNA of (1); (3) a host cell containing the vector of (2); (4) a DNA used for diagnosis of Rothmund-Thomson syndrome, which hybridizes to a DNA encoding the RecQ4 helicase or to the expression regulatory region thereof having a chain length of at least 15 nucleotides, (5) a therapeutic agent for Rothmund-Thomson syndrome, which contains as the effective ingredient a DNA encoding RecQ4 helicase; (6) a therapeutic agent for Rothmund-Thomson syndrome, which contains as the effective ingredient RecQ4 helicase; (7) a diagnostic agent for Rothmund-Thomson syndrome, which contains as the effective ingredient an antibody capable of binding to RecQ4 helicase; (8) a method for the diagnosis of Rothmund-Thomson syndrome, characterized by detecting mutations in the DNA encoding RecQ4 helicase or the expression regulatory region thereof; (9) a method for the diagnosis of Rothmund-Thomson syndrome of (8), comprising the steps of: [0009] (a) preparing DNA samples from patients; [0010] (b) amplifying the prepared DNA samples by using the DNA of (4) as a primer and determining the base sequence; and [0011] (c) comparing the determined base sequence with that of a healthy, normal person; (10) a method for the diagnosis of Rothmund-Thomson syndrome of (8), comprising the steps of: Continue reading about Gene causative of rothmund-thomson syndrome and gene product... 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