Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant

Smith, Carissa M.; Wells, Samuel A.; Gerhard, Daniela S.

doi:10.1007/bf00191793

Cited by 21 publications

(7 citation statements)

References 41 publications

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“…MLK3 cosegregates with PYGM; FRA1, D11S913, HNP36, D11S460, PC, ACTN, D11S703, D11S951E, D11S1956E, and WI-12191 with SEA;and D11S987 and D11S807 (Alu-PCR) with GSTP1. Genetic markers (PYGM, D11S913, D11S460, D11S987, and D11S807) used previously in family studies (Nakamura et al 1989;Larsson et al 1992;Thakker et al 1993;Leppert et al 1994;Weber et al 1994;Smith et al 1995b), as well as genes/expressed sequence tags (ESTs) (MLK3, FRA1, PC, ACTN, D11S951E, D11S1956E, WI-12191, HNP36, SEA, and GSTP1) were included to integrate the transcription, genetic, and RRH maps.…”

Section: Radiation-reduced Somatic Cell Hybridsmentioning

confidence: 99%

A 3-Mb Contig from D11S987 to MLK3, a Gene-Rich Region in 11q13: Figure 1.

Smith¹,

Nancy²,

Nowak³

et al. 1997

Genome Res.

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We have combined genetic, radiation-reduced somatic cell hybrid (RRH), fluorescent in situ hybridization (FISH), and physical mapping methods to generate a contig of overlapping YAC, PAC, and cosmid clones corresponding to >3 continuous Mb in 11q13. A total of 15 STSs [7 genes (GSTP1, ACTN, PC, MLK3, FRA1, SEA, HNP36), 4 polymorphic loci (D11S807, D11S987, GSTP1, D11S913), 3 ESTs (D11S1956E, D11S951E, and WI-12191), and 1 anonymous STS (D11S703)], mapping to three independent RRH segregation groups, identified 26 YAC, 7 PAC, and 16 cosmid clones from the CGM, Roswell Park, CEPH Mark I, and CEPH MegaYAC YAC libraries, a 5 genome equivalent PAC library, and a chromosome 11-specific cosmid library. Thirty-six Alu-PCR products derived from 10 anonymous bacteriophage clones, a cosmid containing the polymorphic marker D11S460, or STS-positive YAC or cosmid clones were identified and used to screen selected libraries by hybridization, resulting in the identification of 19 additional clones. The integrity and relative position of a subset of clones was confirmed by FISH and were found to be consistent with the physical and RRH mapping results. The combination of STS and Alu-PCR-based approaches has proven to be successful in attaining contiguous cloned coverage in this very GC-rich region, thereby establishing for the first time the absolute order and distance between the markers:

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Section: Radiation-reduced Somatic Cell Hybridsmentioning

confidence: 99%

A 3-Mb Contig from D11S987 to MLK3, a Gene-Rich Region in 11q13: Figure 1.

Smith¹,

Nancy²,

Nowak³

et al. 1997

Genome Res.

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“…Over the past decade, the region 11q13 has been the focus of interest of mapping studies and linkage analysis, [29][30][31][32][33][34][35] in the search for the gene responsible for the multiple endocrine neoplasia type 1 (MEN1) syndrome. The MEN1 syndrome is an autosomal, dominantly inherited disorder characterized by the development of multiple endocrine tumors in target organs such as parathyroid, endocrine pancreas and anterior pituitary gland.…”

Section: Introductionmentioning

confidence: 99%

Allelic loss of 11q13 as detected by MEN1-FISH is not associated with mutation of the MEN1 gene in lymphoid neoplasms

et al. 1999

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Deletions and rearrangements involving the long arm of chromosome 11 are not infrequent occurrences in the non-Hodgkin's lymphomas. Recently, a tumor suppressor gene, the multiple endocrine neoplasia type 1 gene (MEN1) was cloned and mapped to chromosome 11q13. To assess the potential involvement of this gene in lymphomagenesis, we examined 94 primary cases of lymphoma and 12 cell lines by a combination of fluorescent in situ hybridization and PCR-SSCP analysis. In our initial analysis of 41 primary B or T lymphomas, MEN1 FISH analysis revealed allelic deletions in 15 cases (three of four B cell chronic lymphocytic leukemias, six of 15 follicular lymphomas, three of nine diffuse large B cell lymphomas, two of five mantle cell lymphomas, one of four Burkitt's lymphoma). To discern whether the MEN1 gene was in fact the target of the deletions, we assessed 20 of these 41 cases and an additional 74 primary lymphomas and 12 cell lines for MEN1 gene mutations using PCR-SSCP analysis. Abnormal SSCP patterns were found in exon 2 in two of the primary lymphoma cases and in one of the cell lines, but not in any of the original cases that showed MEN1 deletions by FISH. Furthermore, sequencing analysis revealed that the abnormal SSCP patterns in exon 2 were the result of a previously described genetic polymorphism (S145S: AGC → ACT), and in one sample, the result of this S145S polymorphism associated with a second nucleotide substitution at position 498 which left the encoded amino acid unchanged. Our study indicates that the 11q13 locus is a frequent target of deletion in lymphoid neoplasms, but that there are no associated mutations of the MEN1 gene. This suggests that the 11q deletions either target another gene in lymphomas, or that the MEN1 gene is inactivated through means other than mutation.

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“…The PYGM (muscle glycogen phosphorylase) marker at chromosome 11q13 originally was found to be linked to MEN1, showing no recombination with the MEN1 phenotype (Larsson et al 1988;Nakamura et al 1989;Petty et al 1994;Kytola et al 1995;Smith et al 1995;Courseaux et al 1996). However, recombinants between the MEN1 phenotype and more centromeric and telomeric markers have narrowed the MEN1 locus to a ∼2-Mb interval flanked by the markers D11S1883 and D11S449 Debelenko et al 1997a).…”

mentioning

confidence: 99%

A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus

et al. 1997

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Multiple endocrine neoplasia type 1 (MEN 1) is an inherited cancer syndrome in which affected individuals develop multiple parathyroid, enteropancreatic, and pituitary tumors. The locus for MEN1 is tightly linked to the marker PYGM on chromosome 11q13, and linkage analysis places the MEN1 gene within a 2-Mb interval flanked by the markers D11S1883 and D11S449. Loss of heterozygosity studies in MEN 1 and sporadic tumors suggest that theMEN1 gene encodes a tumor suppressor and have helped to narrow the location of the gene to a 600-kb interval between PYGM andD11S449. Focusing on this smaller MEN1 interval, we have identified and mapped 12 transcripts to this 600-kb region. A precise ordered map of 33 transcripts, including 12 genes known to map to this region, was generated for the 2.8-Mb D11S480–D11S913interval. Fifteen candidate genes (of which 10 were examined exhaustively) were evaluated by Southern blot and/or dideoxy fingerprinting analysis to identify the gene harboring disease-causing mutations.[The sequence data described in this paper have been submitted to GenBank under accession nos. EST06996, U93236,AF001540–AF001547, AF001433–AF001436, AF001891–AF001893,N55476, R19205, and W37647 (see Table 1 for listing of transcripts). The BAC clone sequences have been submitted to GenBank under accession nos. AC000134, AC000159, and AC000353.]

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Mapping eight new polymorphisms in 11q13 in the vicinity of multiple endocrine neoplasia type 1: identification of a new distal recombinant

Cited by 21 publications

References 41 publications

A 3-Mb Contig from D11S987 to MLK3, a Gene-Rich Region in 11q13: Figure 1.

A 3-Mb Contig from D11S987 to MLK3, a Gene-Rich Region in 11q13: Figure 1.

Allelic loss of 11q13 as detected by MEN1-FISH is not associated with mutation of the MEN1 gene in lymphoid neoplasms

A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus

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