Assignment&lt;footref rid="foot01"&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/footref&gt; of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3→p36.2 by in situ hybridization and somatic cell hybrid analysis

Stover, Cordula M.; Schwaeble, Wilhelm; Lynch, Nicholas J.; Thiel, Steffen; Speicher, Michael R.

doi:10.1159/000015243

Cited by 23 publications

(13 citation statements)

References 14 publications

(16 reference statements)

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“…The genes included TNFRSF9 (tumor necrosis factor receptor superfamily, member 9; formerly known as 4-1BB, 4-1BB ligand receptor precursor) (Goodwin et al, 1993;Schwarz et al, 1993;Alderson et al, 1994), TNFRSF8 (tumor necrosis factor receptor superfamily, member 8; formerly known as CD30 lymphocyte activation antigen) (Fonatsch et al, 1992), DFFA (DNA fragmentation factor, alpha subunit) (Leek et al, 1997), DJ-1 (RNAbinding protein regulatory subunit) (Nagakubo et al, 1997), TNFRSF12 (tumor necrosis factor receptor superfamily, member 12; formerly known as DR3 death domain receptor 3) (Grenet et al, 1998), FRAP1 (FK506 binding protein 12-rapamycin-associated protein 1) (Moore et al, 1996), HKR3 (GLI-Krü ppel family member HKR3) (Maris et al, 1996(Maris et al, , 1997, MASP2 (mannan-binding lectin serine protease 2) (Stover et al, 1999), MTHFR [5,10-methylenetetrahydrofolate reductase (NADPH)] (Goyette et al, 1994), HUM-HOXY1 (zinc finger DNA-binding protein; formerly known as RIZ, retinoblastoma-interacting zinc finger protein) (Buyse et al, 1995(Buyse et al, , 1996, TNFRSF1B (tumor necrosis factor receptor superfamily, member 1B; formerly known as TNFR2 tumor necrosis factor receptor 2 precursor) (Kemper et al, 1991), and TP73 (tumor protein 73) (Kaghad et al, 1997;Perri et al, 1999). Primers and PCR conditions were as described by each of the references cited.…”

Section: Examination Of Candidate Genes At 1p36mentioning

confidence: 99%

Smallest region of overlapping deletion in 1p36 in human neuroblastoma: A 1 Mbp cosmid and PAC contig

Bauer

Savelyeva

Claas

et al. 2001

Genes Chromosomes & Cancer

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In human neuroblastomas, the distal portion of 1p is frequently deleted, as if one or more tumor suppressor genes from this region were involved in neuroblastoma tumorigenesis. Earlier studies had identified a smallest region of overlapping deletion (SRO) spanning approximately 23 cM between the most distally retained D1S80 and by the proximally retained D1S244. In pursuit of generating a refined delineation of the minimally deleted region, we have analyzed 49 neuroblastomas of different stages for loss of heterozygosity (LOH) from 1pter to 1p35 by employing 26 simple sequence length polymorphisms. Fifteen of the 49 tumors (31%) had LOH; homozygous deletion was not detected. Seven tumors had LOH at all informative loci analyzed, and eight tumors showed a terminal or an interstitial allelic loss of 1p. One small terminal and one interstitial deletion defined a new 1.7 cM SRO, approximately 1 Mbp in physical length, deleted in all tumors between the retained D1S2731 (distal) and D1S2666 (proximal). To determine the genomic complexity of the deleted region shared among tumors, we assembled a physical map of the I Mbp SRO consisting predominantly of bacteriophage P1-derived artificial chromosome (PAC) clones. A total of 55 sequence-tagged site (STS) markers (23 published STSs and short tandem repeats and 32 newly identified STSs from the insert ends of PACs and cosmids) were assembled in a contig, resulting in a sequence-ready physical map with approximately one STS per 20 Kbp. Twelve genes (41BB, CD30, DFFA, DJ1, DR3, FRAP, HKR3, MASP2, MTHFR, RIZ, TNR2, TP73) previously mapped to 1p36 are localized outside this SRO. On the basis of this study, they would be excluded as candidate genes for neuroblastoma tumorigenesis. Ten expressed sequence tags were integrated in the contig, of which five are located outside the SRO. The other five from within the SRO may provide an entrance point for the cloning of candidate genes for neuroblastoma.

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Section: Examination Of Candidate Genes At 1p36mentioning

confidence: 99%

Smallest region of overlapping deletion in 1p36 in human neuroblastoma: A 1 Mbp cosmid and PAC contig

Bauer

Savelyeva

Claas

et al. 2001

Genes Chromosomes & Cancer

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“…The MASP2 gene is located on chromosome 1p36.23-31 [14]. Its promoter is regulated by signal transducer and activator or transcription 3, interleukin-1b, and interleukin-6 [15,16], and the protein is encoded by 12 exons distributed over 20 kb.…”

Section: Introductionmentioning

confidence: 99%

Multiplex sequence-specific polymerase chain reaction reveals new MASP2 haplotypes associated with MASP-2 and MAp19 serum levels

et al. 2011

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“…The Arg-Ile site is conserved in MASP-2, and a similar cleavage appears to occur in the course of MASP-2 activation (2). The MASP-1 and MASP-2 genes are located on chromosomes 3 and 1, respectively (12,13). Genetic analyses suggest that the MASP genes and the C1r and C1s genes arose via a series of duplications from a common ancestor (14).…”

mentioning

confidence: 99%

Distinct Pathways of Mannan-Binding Lectin (MBL)- and C1-Complex Autoactivation Revealed by Reconstitution of MBL with Recombinant MBL-Associated Serine Protease-2

Vorup-Jensen

Petersen

Hansen

et al. 2000

The Journal of Immunology

187

118

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Mannan-binding lectin (MBL) plays a pivotal role in innate immunity by activating complement after binding carbohydrate moieties on pathogenic bacteria and viruses. Structural similarities shared by MBL and C1 complexes and by the MBL- and C1q-associated serine proteases, MBL-associated serine protease (MASP)-1 and MASP-2, and C1r and C1s, respectively, have led to the expectation that the pathways of complement activation by MBL and C1 complexes are likely to be very similar. We have expressed rMASP-2 and show that, whereas C1 complex autoactivation proceeds via a two-step mechanism requiring proteolytic activation of both C1r and C1s, reconstitution with MASP-2 alone is sufficient for complement activation by MBL. The results suggest that the catalytic activities of MASP-2 split between the two proteases of the C1 complex during the course of vertebrate complement evolution.

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Assignment<footref rid="foot01"><sup>1</sup></footref> of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3→p36.2 by in situ hybridization and somatic cell hybrid analysis

Cited by 23 publications

References 14 publications

Smallest region of overlapping deletion in 1p36 in human neuroblastoma: A 1 Mbp cosmid and PAC contig

Smallest region of overlapping deletion in 1p36 in human neuroblastoma: A 1 Mbp cosmid and PAC contig

Multiplex sequence-specific polymerase chain reaction reveals new MASP2 haplotypes associated with MASP-2 and MAp19 serum levels

Distinct Pathways of Mannan-Binding Lectin (MBL)- and C1-Complex Autoactivation Revealed by Reconstitution of MBL with Recombinant MBL-Associated Serine Protease-2

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