Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers

Harada, Haruhito; Nagai, Hisaki; Tsuneizumi, Michiko; Mikami, Iwao; Sugano, Sumio; Emi, Mitsuru

doi:10.1007/s100380170115

Cited by 38 publications

(26 citation statements)

References 30 publications

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“…obtained. A polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis for each exon was carried out as described previously (Harada et al 2001) by using the PCR primer sets shown in Table 1.…”

Section: Methodsmentioning

confidence: 99%

Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene

et al. 2002

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Section: Methodsmentioning

confidence: 99%

Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene

et al. 2002

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“…To search for germline mutation in the NF2 gene, we amplified all seventeen exons of the gene in genomic DNA from blood of patients B and C as well as cancerfree volunteers (Harada et al, 2001) using the primers described by Jacoby et al (1994) (Table 2). Direct sequencing of the entire coding region was carried out as previously described (Iwasaki et al, 2001).…”

Section: Patientmentioning

confidence: 99%

A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor

et al. 2003

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Familial ependymal tumors are a very rare disease, the pathogenesis of which is unknown. Previous studies indicate an involvement of tumor suppressor genes localized within chromosomal region 22q, whereas details are still unclear. Here we report a non-neurofibromatosis type-2 (non-NF2) Japanese family in which two of the four members are affected with cervical spinal cord ependymoma, and one of the four is affected with schwannoma. Loss of heterozygosity (LOH) studies were carried out searching for common allelic loss at chromosomal region 22q11.2-qtel in two of the affected patients. Our findings support a prediction for existence of a tumor suppressor gene on chromosome 22 especially related to the tumorigenesis of familial ependymal tumors.

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“…PCR amplification of the polymorphism at the GSBS locus was carried out using a condition described previously Harada et al 2001); primer sequences used are as follows: forward primer: 5¢-TGCGTGGCTTCAAATGATTA C-3¢; reverse primer: 5¢-ACAGGTCCAG TCCTGCTGAC-3¢. The surrounding sequence of the amino acid-substituting SNP in the GSBS gene, i.e., polymorphic nucleotides T/C substitution at the )1323 position as well as primer sequences and experimental conditions were obtained from published reports (Haga et al 2002).…”

Section: Genotyping For Single Nucleotide Polymorphism (Snp)mentioning

confidence: 99%

A promoter SNP (–1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia

et al. 2003

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Factors predisposing to the phenotypic features of higher total cholesterol (TC) have not been clearly defined. Here we report an association between a promoter SNP ()1323T>C) in G-substrate gene (GSBS) and TC levels in 368 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of LDLcholesterol, TG, TC, and HDL-cholesterol were analyzed. When we separate the subjects into two genotypic groups regarding T allele, those who bear the T allele had significantly higher plasma TC levels than the others who lack the T allele (mean; 239.6 mg/dl vs. 210.6 mg/dl; p=0.003; Mann-Whitney test). Of the 341 individuals with the T allele, approximately 80% individuals presented with hypercholesterolemia, whereas only 44% were hypercholesterolemic among the 27 individuals without the T allele ( p=0.0001). These results indicate a significant elevating effect of plasma TC levels by a SNP in the putative regulatory region of the G-substrate gene in our studied population. These data suggest that genetic variation at the G-substrate gene may be one of the determinants for plasma lipoprotein levels.

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Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers

Abstract: Frequent allelic losses within chromosomal band 17q25

Cited by 38 publications

References 30 publications

Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene

Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene

A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor

A promoter SNP (–1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia

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