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James E Hixson - One of the best experts on this subject based on the ideXlab platform.

  • linkage of serum insulin concentrations to Chromosome 3p in mexican americans
    Diabetes, 2000
    Co-Authors: Braxton D Mitchell, Shelley A Cole, Wen Chi Hsueh, Anthony G Comuzzie, John Blangero, Jean W Maccluer, James E Hixson
    Abstract:

    Hyperinsulinemia predicts the development of type 2 diabetes, and family studies suggest that insulin levels are regulated in part by genes. We conducted a genome-wide scan to detect genes influencing variation in fasting serum insulin concentrations in 391 nondiabetic individuals from 10 large multigenerational families. Approximately 380 microsatellite markers with an average spacing of 10 cM were genotyped in all study subjects. Insulin concentrations measured by radioimmunoassay were transformed by their natural logarithms before analysis. In multipoint analysis, peak evidence for linkage occurred on Chromosome 3p approximately 109 cM from pter in the region of 3p14.2-p14.1. The multipoint logarithm of odds (LOD) score was 3.07, occurring in the region flanked by markers D3S1600 and D3S1285 (P value by simulation <0.0001). In a two-point analysis, LOD scores ranged from 0.75 to 2.52 for the nine markers typed in the region spanning 88-143 cM from pter. The fasting insulin resistance index was highly correlated with fasting insulin concentrations in this sample and also provided strong evidence for linkage to this region (LOD = 2.99). There was no evidence in our genome-wide scan for linkage of insulin levels to any other Chromosome. These results provide evidence that a gene-influencing variation in insulin concentrations exists on Chromosome 3p. Possible candidate genes in this region include GBE1 and ACOX2, which encode enzymes involved in glycogen and fatty acid metabolism, respectively.

  • Linkage of serum insulin concentrations to Chromosome 3p in Mexican Americans
    Diabetes, 2000
    Co-Authors: Braxton D Mitchell, Shelley A Cole, Wen Chi Hsueh, Anthony G Comuzzie, John Blangero, Jean W Maccluer, James E Hixson
    Abstract:

    Hyperinsulinemia predicts the development of type 2 diabetes, and family studies suggest that insulin levels are regulated in part by genes. We conducted a genome-wide scan to detect genes influencing variation in fasting serum insulin concentrations in 391 nondiabetic individuals from 10 large multigenerational families. Approximately 380 microsatellite markers with an average spacing of 10 cM were genotyped in all study subjects. Insulin concentrations measured by radioimmunoassay were transformed by their natural logarithms before analysis. In multipoint analysis, peak evidence for linkage occurred on Chromosome 3p approximately 109 cM from pter in the region of 3p14.2-p14.1. The multipoint logarithm of odds (LOD) score was 3.07, occurring in the region flanked by markers D3S1600 and D3S1285 (P value by simulation

Takashi Kohno - One of the best experts on this subject based on the ideXlab platform.

  • Infrequent mutations of the transforming growth factor beta-type II receptor gene at Chromosome 3p22 in human lung cancers with Chromosome 3p deletions.
    Carcinogenesis, 1997
    Co-Authors: Masachika Tani, Takashi Kohno, Seiichi Takenoshita, Koichi Hagiwara, Yukio Nagamachi, Curtis C. Harris, Jun Yokota
    Abstract:

    Mutations in the transforming growth factor beta-type II receptor (TGFbeta RII) gene have been detected in several types of human cancers that represent the phenotype of genomic instability. The TGFbeta RII gene has been mapped to Chromosome 3p, on which loss of heterozygosity (LOH) was frequently detected in both small cell lung carcinoma (SCLC) and non-small cell lung carcinoma (NSCLC). To investigate whether the TGFbeta RII gene on 3p22 is inactivated in lung cancers, we examined 35 sporadic lung cancers (15 SCLC and 20 NSCLC) with LOH on 3p for mutations of the TGFbeta RII gene. We previously produced eight intron based primer pairs for mutational analysis of the entire coding region of the TGFbeta RII gene. Using these primers, we screened for mutations of the TGFbeta RII gene by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis. A mutation was detected in a case of SCLC: one base insertion in the polyadenine tract of exon 3. This tumor showed the replication error (RER) phenotype. There were no mutations in exons 1, 2, 4, 5, 6 and 7. These results indicate that the polyadenine tract is a mutational hot spot in the TGFbeta RII gene in RER positive tumors, and that TGFbeta RII mutations occur rarely in lung cancers with LOH on Chromosome 3p.

  • deletion mapping of Chromosome 3p in human uterine cervical cancer
    Oncogene, 1993
    Co-Authors: Takashi Kohno, H Takayama, Masaaki Hamaguchi, Hirokuni Takano, Henrik Vissing, Naohito Yamaguchi, Setsuo Hirohashi, Hitoshi Tsuda, Motoyuki Shimizu
    Abstract:

    : Deletion mapping of Chromosome 3p was performed on 47 cases of human uterine cervical cancer using 24 polymorphic DNA markers including five inter-Alu DNA markers and two NotI-boundary cosmid markers obtained in our laboratory. The most likely order of these 24 polymorphic DNA markers was determined as being cen-[D3S4, H8]-D3S693-D3S659-D3S30-D3S687-[D3S2, UR9, UR47]-J36-J17-GNAI2B-D3F15S2-D3S643- D3S32-D3S23-D3S686-H35-UR189-D3S685-D3S 11 - D3S12-THRB-D3S22-pter, based on the data from radiation hybrid mapping genetic linkage analysis and in situ hybridization. Loss of heterozygosity (LOH) at one or more loci on Chromosome 3p was detected in 21 of 47 cases (45%). Four tumors showed partial or interstitial deletions, and the common region of LOH in these tumors was 3p13-p21.1 between the D3S30 marker and the D3S2 marker. Candidates for tumor-suppressor genes, APEH, D8, GNA12B, ZNF35, RARB, THRB and RAFI, were all mapped outside of the common region in uterine cervical cancer. However, this region is commonly deleted in carcinoma of the lung, breast and kidney, and encompasses the breakpoint of the (3;8) translocation in hereditary renal cell carcinoma. This result indicates the presence of a novel tumor-suppressor gene in the region of 3p13-p21.1, which is involved in the development of several human cancers.

  • Chromosome 3p deletion in a renal cell carcinoma cell line established from a patient with von Hippel-Lindau disease.
    Japanese journal of clinical oncology, 1993
    Co-Authors: Takashi Kohno, Mitsuo Oshimura, Teruaki Sekine, Ken-ichi Tobisu, Jun Yokota
    Abstract:

    von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disease, frequently accompanied by occurrences of renal cell carcinoma (RCC). Both the VHL gene and tumor suppressor genes for RCC have been mapped to the short arm of Chromosome 3, although the genes have not yet been identified. An RCC cell line, KC12, was established from a VHL patient. Molecular genetic analyses in conjunction with cytogenetic studies revealed that the short arm of Chromosome 3 distal to the D3S4 locus at 3p11 was lost in the RCC cell line as a result of an unbalanced translocation between Chromosomes 3p and 5q. Structural and numerical aberrations, including those on Chromosome 3p, were not detected in T-lymphocytes from the patient, suggesting that the inherited mutation of the VHL gene at 3p25-26 in this patient was too subtle to be detected by either Southern blot or karyotype analysis. Since no permanent RCC cell line has been established from a VHL patient, this cell line will be a useful source for analyzing the VHL gene at 3p25-26 and tumor suppressor gene(s) at 3p13-21.

  • Ordering of human Chromosome 3p markers by radiation hybrid mapping.
    Genomics, 1992
    Co-Authors: Mayumi Tamari, Masaaki Hamaguchi, Motoyuki Shimizu, Mitsuo Oshimura, Takashi Kohno, Naohito Yamaguchi, Hisashi Takayama, Takashi Sugimura, Masaaki Terada, Jun Yokota
    Abstract:

    Abstract To construct a panel of radiation hybrids (RHs) for human Chromosome 3p mapping, mouse microcell hybrid cells, A9(neo3/t)-5, containing a single copy of human Chromosome 3p with pSV2neo plasmid DNA integrated at 3p21-p22 were irradiated and fused to mouse A9 cells. A panel of 96RHs that retain several sizes and portions of human Chromosome 3p segments was used to map 25 DNA markers for Chromosome 3p. Eight of them, H28, H29, H32, H33, H35, H38, H48, and H64, were cloned from Alu -primed PCR products using A9(neo3/t)-5 cell DNA as a template. The most likely order of the 24 markers, except for H28, based on the statistical ordering method proposed by Falk, was cen-D3S4-D3S3-D3S30-H29-D3S13-D3S2-H48-D3F15S2-D3S32-D3S23-CCK-H35-H33-D3S11-D3S12-RARB-THRB(ERBA2-pBH302)-H64-H38-RAF1-D3S18-H32-D3S22-pter. The order and location of these markers were in good agreement with those previously determined by other mapping methods, suggesting that a panel of these 96 RHs is a valuable source for a rapid mapping of human Chromosome 3p markers.

Jun Yokota - One of the best experts on this subject based on the ideXlab platform.

  • Infrequent mutations of the transforming growth factor beta-type II receptor gene at Chromosome 3p22 in human lung cancers with Chromosome 3p deletions.
    Carcinogenesis, 1997
    Co-Authors: Masachika Tani, Takashi Kohno, Seiichi Takenoshita, Koichi Hagiwara, Yukio Nagamachi, Curtis C. Harris, Jun Yokota
    Abstract:

    Mutations in the transforming growth factor beta-type II receptor (TGFbeta RII) gene have been detected in several types of human cancers that represent the phenotype of genomic instability. The TGFbeta RII gene has been mapped to Chromosome 3p, on which loss of heterozygosity (LOH) was frequently detected in both small cell lung carcinoma (SCLC) and non-small cell lung carcinoma (NSCLC). To investigate whether the TGFbeta RII gene on 3p22 is inactivated in lung cancers, we examined 35 sporadic lung cancers (15 SCLC and 20 NSCLC) with LOH on 3p for mutations of the TGFbeta RII gene. We previously produced eight intron based primer pairs for mutational analysis of the entire coding region of the TGFbeta RII gene. Using these primers, we screened for mutations of the TGFbeta RII gene by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis. A mutation was detected in a case of SCLC: one base insertion in the polyadenine tract of exon 3. This tumor showed the replication error (RER) phenotype. There were no mutations in exons 1, 2, 4, 5, 6 and 7. These results indicate that the polyadenine tract is a mutational hot spot in the TGFbeta RII gene in RER positive tumors, and that TGFbeta RII mutations occur rarely in lung cancers with LOH on Chromosome 3p.

  • Chromosome 3p deletion in a renal cell carcinoma cell line established from a patient with von Hippel-Lindau disease.
    Japanese journal of clinical oncology, 1993
    Co-Authors: Takashi Kohno, Mitsuo Oshimura, Teruaki Sekine, Ken-ichi Tobisu, Jun Yokota
    Abstract:

    von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disease, frequently accompanied by occurrences of renal cell carcinoma (RCC). Both the VHL gene and tumor suppressor genes for RCC have been mapped to the short arm of Chromosome 3, although the genes have not yet been identified. An RCC cell line, KC12, was established from a VHL patient. Molecular genetic analyses in conjunction with cytogenetic studies revealed that the short arm of Chromosome 3 distal to the D3S4 locus at 3p11 was lost in the RCC cell line as a result of an unbalanced translocation between Chromosomes 3p and 5q. Structural and numerical aberrations, including those on Chromosome 3p, were not detected in T-lymphocytes from the patient, suggesting that the inherited mutation of the VHL gene at 3p25-26 in this patient was too subtle to be detected by either Southern blot or karyotype analysis. Since no permanent RCC cell line has been established from a VHL patient, this cell line will be a useful source for analyzing the VHL gene at 3p25-26 and tumor suppressor gene(s) at 3p13-21.

  • Ordering of human Chromosome 3p markers by radiation hybrid mapping.
    Genomics, 1992
    Co-Authors: Mayumi Tamari, Masaaki Hamaguchi, Motoyuki Shimizu, Mitsuo Oshimura, Takashi Kohno, Naohito Yamaguchi, Hisashi Takayama, Takashi Sugimura, Masaaki Terada, Jun Yokota
    Abstract:

    Abstract To construct a panel of radiation hybrids (RHs) for human Chromosome 3p mapping, mouse microcell hybrid cells, A9(neo3/t)-5, containing a single copy of human Chromosome 3p with pSV2neo plasmid DNA integrated at 3p21-p22 were irradiated and fused to mouse A9 cells. A panel of 96RHs that retain several sizes and portions of human Chromosome 3p segments was used to map 25 DNA markers for Chromosome 3p. Eight of them, H28, H29, H32, H33, H35, H38, H48, and H64, were cloned from Alu -primed PCR products using A9(neo3/t)-5 cell DNA as a template. The most likely order of the 24 markers, except for H28, based on the statistical ordering method proposed by Falk, was cen-D3S4-D3S3-D3S30-H29-D3S13-D3S2-H48-D3F15S2-D3S32-D3S23-CCK-H35-H33-D3S11-D3S12-RARB-THRB(ERBA2-pBH302)-H64-H38-RAF1-D3S18-H32-D3S22-pter. The order and location of these markers were in good agreement with those previously determined by other mapping methods, suggesting that a panel of these 96 RHs is a valuable source for a rapid mapping of human Chromosome 3p markers.

John P. Rooney - One of the best experts on this subject based on the ideXlab platform.

  • candidate genes for recessive non syndromic mental retardation on Chromosome 3p mrt2a
    Clinical Genetics, 2004
    Co-Authors: Joseph J. Higgins, Joanna Pucilowska, Roni Q. Lombardi, John P. Rooney
    Abstract:

    A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on Chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR.

  • Candidate genes for recessive non-syndromic mental retardation on Chromosome 3p (MRT2A)*
    Clinical genetics, 2004
    Co-Authors: Joseph J. Higgins, Joanna Pucilowska, Roni Q. Lombardi, John P. Rooney
    Abstract:

    A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on Chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR.

Braxton D Mitchell - One of the best experts on this subject based on the ideXlab platform.

  • linkage of serum insulin concentrations to Chromosome 3p in mexican americans
    Diabetes, 2000
    Co-Authors: Braxton D Mitchell, Shelley A Cole, Wen Chi Hsueh, Anthony G Comuzzie, John Blangero, Jean W Maccluer, James E Hixson
    Abstract:

    Hyperinsulinemia predicts the development of type 2 diabetes, and family studies suggest that insulin levels are regulated in part by genes. We conducted a genome-wide scan to detect genes influencing variation in fasting serum insulin concentrations in 391 nondiabetic individuals from 10 large multigenerational families. Approximately 380 microsatellite markers with an average spacing of 10 cM were genotyped in all study subjects. Insulin concentrations measured by radioimmunoassay were transformed by their natural logarithms before analysis. In multipoint analysis, peak evidence for linkage occurred on Chromosome 3p approximately 109 cM from pter in the region of 3p14.2-p14.1. The multipoint logarithm of odds (LOD) score was 3.07, occurring in the region flanked by markers D3S1600 and D3S1285 (P value by simulation <0.0001). In a two-point analysis, LOD scores ranged from 0.75 to 2.52 for the nine markers typed in the region spanning 88-143 cM from pter. The fasting insulin resistance index was highly correlated with fasting insulin concentrations in this sample and also provided strong evidence for linkage to this region (LOD = 2.99). There was no evidence in our genome-wide scan for linkage of insulin levels to any other Chromosome. These results provide evidence that a gene-influencing variation in insulin concentrations exists on Chromosome 3p. Possible candidate genes in this region include GBE1 and ACOX2, which encode enzymes involved in glycogen and fatty acid metabolism, respectively.

  • Linkage of serum insulin concentrations to Chromosome 3p in Mexican Americans
    Diabetes, 2000
    Co-Authors: Braxton D Mitchell, Shelley A Cole, Wen Chi Hsueh, Anthony G Comuzzie, John Blangero, Jean W Maccluer, James E Hixson
    Abstract:

    Hyperinsulinemia predicts the development of type 2 diabetes, and family studies suggest that insulin levels are regulated in part by genes. We conducted a genome-wide scan to detect genes influencing variation in fasting serum insulin concentrations in 391 nondiabetic individuals from 10 large multigenerational families. Approximately 380 microsatellite markers with an average spacing of 10 cM were genotyped in all study subjects. Insulin concentrations measured by radioimmunoassay were transformed by their natural logarithms before analysis. In multipoint analysis, peak evidence for linkage occurred on Chromosome 3p approximately 109 cM from pter in the region of 3p14.2-p14.1. The multipoint logarithm of odds (LOD) score was 3.07, occurring in the region flanked by markers D3S1600 and D3S1285 (P value by simulation