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probably caused by the less efficient release of this chromosome during cell lysis. genomic; E eDNA: probe A t(4;22) E = probe B 5' MN1 axon ,SS\,S\SS'''SS\\\\\''SSSSSSSSSSS'J probe C Telomere +--- Centromere kb 21 5,1 - 4.3 - probe A probe n prohe C Figure 3, Fine mapping of the 1(4;22) breakpoint in meningioma 32. On top the physical map of the 8 kb genomic fragment with the localization of the 5' MNJ exon, the translocation breakpoint and the probes (genomic probes A and H, eDNA probe C) used for the mapping are shown. Below {he hybridizations of EcoRI digested DNA with probes A, Band C are shown. Lane Human: control DNA from leucocytes of an unrelated individual. Lane MN32: DNA (rom cultured nleningioma 32 cells. Lanes 6A, 14G1O and 9B, see figure 1 legend for a description. Lane A3: Chinese hamster (A3) control DNA, Lane PgMe25NU: control DNA from (mouse) hybrid PgMe25NU containing only human chromosome 22, Lane Mouse: control mouse DNA, The sizes of the markers are indicated on the left, 130
Southerll, 1l0l1hern blots and evolutional'Y conservation. DNA isolated from 71 meningiomas was investigated for rearranged fragments using probes from the region spanning the MNI gene. Probes, which recognize all different EcoRI fragments from this region, were used to hybridize southern blots containing BglII, EcoRI, HindllI and Pvull digested meningioma DNA. Using this method we detected alternative fragments in DNA isolated from meningioma 55. This is a meningioma derived from a patient with multiple meningiomas. The rearranged fragments are the result of an interstitial deletion and a point mutation in the germline of patient 55, which disrupt two EcoRI sites located approximately 10 kb downstream of the MNI gene as was reported previously (Lekanne Deprez et aI., 1994a). No other meningiomas showed aberrations using this analysis. A northern blot, containing 2 I'g of poly A + RNA extracted from 8 different human tissues, was hybridized with eDNA probe 17.1 (Fig. 2). All tissues showed hybridization of a transcript of about 8 kb, with the highest expression level and an additional 4.5 kb transcript found in skeletal muscle (Fig. 4A). At present it is not known if this transcript is the result of alternative splicing or hybridization with a homologous gene. An example of northern blots made from total RNA isolated from meningiomas is shown in figure 4B. In meningiomas only the 8 kb messenger is observed and different meningiomas show a variable expression level of the MNI gene. Some meningiomas show a high level, others a low or undetectable level (Fig. 4, lanes 1-7). The fi-actin eDNA probe was used to quantitate the relative levels of the transcript. RNA isolated from cells cultured from meningioma 32, containing only tumor cells, as was established by cytogenetic analysis, showed no expression of the MNI gene (data not shown). I31
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GENES ON CHROMOSOME 22 INVOLVED IN
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PROMOTmCOMMIssm Promotor: Prof. Dr.
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Contents List of abbreviations 9 Ch
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List of abbreviations APC bp DCC FA
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1 Cancer is a genetic disease It is
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transformation came from somatic ce
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to tumorigenesis if a mutation inac
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is that this interaction inactivate
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endogenous wt p53 by forming mixed
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Recent studies in these families ha
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In about 15% of all colon tumors an
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e explained by assuming that the nu
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3.6 The NFl gene Neurofibromatosis
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4 MENINGIOMA 4.1 Cells of origin In
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fossa and foramen magnum), convexit
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early cell cultures the presence of
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gene (Dumanski et aI., NNFF consort
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et aI., 1991b; Larsson et aI., 1990
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6 References Aaltonen LA, Peltomiik
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(1988) SV40 large tumor antigen for
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Haber DA, Buckler AJ, Glaser T, Cal
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carcinomas. Genes Chrom Cancer 2:19
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Pelletier J, Breunin~ W, Kashtan CE
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Stratton MR, Darling J, Lantos PL,
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Chapter II Isolatioll alld characte
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SHORT COMMUNICATION TABLE 1 Charact
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Appendix A lIew polymorphic probe 0
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Nudeic Acids Research, Vol. 19, No.
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Chapter III Cytogenetic, molecular
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Introduction Meningiomas are consid
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defined by evaluating 6 histologica
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number of clonal chromosomal abnorm
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#22 status No. Sex/Age (yr) Site of
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#22 slattls No. SexiAge (yr) Site o
Page 78 and 79:
#22 status No. Sex/Age (yr) Site of
Page 80 and 81: Table 2. Comparison of FISH, cytoge
Page 82 and 83: No. Days in Karyotypes andlor clona
Page 84 and 85: No. Days in Karyotypes and/or clona
Page 86 and 87: to map both breakpoints (data not s
Page 88 and 89: Statistical analyses concerning age
Page 90 and 91: Tuble 4. Frequency tables between d
Page 92 and 93: from adult patients, indicating tha
Page 94 and 95: Acknowledgements This study was sup
Page 96 and 97: McDermid HE, Duncan AMV, Higgins MJ
Page 99 and 100: Chapter IV Familial anaplastic epen
Page 101 and 102: Familial anaplastic ependymoma: evi
Page 103 and 104: PATIENT A, born 1977, presented at
Page 105 and 106: Microscopic examination (patients A
Page 107 and 108: (Lekanne Deprez et aI., 1994). Tabl
Page 109 and 110: Chapter V A t(4;22) ill a meningiom
Page 111 and 112: Am. J. HI/m. Genet. 48:783-790, 199
Page 113 and 114: Putative Tumor-suppressor Gene in M
Page 119 and 120: Chapter VI Molecular clolling of a
Page 121 and 122: Molecular Cloning of a Gene Disrupt
Page 123 and 124: to playa role in the development of
Page 125 and 126: total sheared human genomic DNA bef
Page 127 and 128: Genomic cosmid contig spanning the
Page 129: probe A is conserved in hamster DNA
Page 133 and 134: The evolutionary conservation of th
Page 135 and 136: A " l ... aGAP~RAGC EPOV~SR~AGQGE ;
Page 137 and 138: postulates that the first AUG codon
Page 139 and 140: Bijlsma EK, Brouwer~Mladin R, Bosch
Page 141 and 142: Tanaka N, Nishisho I, Yamamoto 1'.1
Page 143 and 144: Chapter VII Constitutional DNA-leve
Page 145 and 146: GENES, CHROMOSOMES & CANCER 9;124-1
Page 147 and 148: LfKANNf DfPREZ fT AL TABLE I. Cytog
Page 149 and 150: LEKANNE DEPRF2 ET AL could be that
Page 151 and 152: Chapter VIII Frequent NF2 gene tran
Page 153 and 154: Am.'. HIIIII. Gellet. 54:1022-1029,
Page 155 and 156: Lekanne Deprez ct al. Table I Oligo
Page 157 and 158: Table 2 Nfl Gene-Transcript Mutatio
Page 159 and 160: Lebnne Deprez et lli. observed at a
Page 161 and 162: Summary and Discussion Meningioma i
Page 163 and 164: translocation (Chapter V). These hy
Page 165 and 166: were derived from patients with mor
Page 167 and 168: Samenvatting Meningeomen zUn goedaa
Page 169 and 170: het gebied rondom het MNI gen te be
Page 171 and 172: Curriculum vitae 30 juni 1965 gebor
Page 173 and 174: List of publications I) van 't Veer
Page 175 and 176: Nawoord Dit boekje is 101 sland gek
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