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Nudeic Acids Research, Vol. 19, No.3 A new polymorphic probe on chromosome 22: NB84 (0228183) A.H.Lekanne Deprez', NAvan Biezen, P.Heutlnk 1 , K.R.G.S.8oejharat, Ada Klein 2 , A.H.M.Geurts van Kessel 3 and E,C.Zwarthoff Departments of Pathology, lClinicaJ Genetics and 2Cell Biology and Genetics. Erasmus University and JOepartment 01 Human Genetics, University of Nijmegen. The Netherlands A new polymorphic probe on chromosome 22q: NB129 (0228193) R.H.Lekanne Deprez', N.A.van Biezen, P.Heutinkl, K.R.G.S.Boejharal, A.de Klein 2 , AH.M.Geurts van Kessel 3 and E.C.Zwarthoff Departments of Pathology, !Clinical Genetics and "Celt Biology and Genetics, Erasmus University and 3Department of Human Genetics. University of Nijmegen, The Netherlands Source/Description: NB84 is a 1.0 kb HindJlI·EcoRI fragment isolated from Iwo pooled chromosome 22 specific libraries (AT CC 1/ 57733 and ATCC 1/ 57714) and is subdoned into pUC9. Polmwrphism: Pstl digestion of genomic DNA and hybridization with the probe detects a two allele polymorphism: 4.6 kb (AI) and 4.0 kb (Al). No constant bands were present. Frequency: E5tirnated from 91 unrelated Caucasians. AI: 0.19 A2: 0.81. NOI PO(\'Inorphic For. Bgll, Bglll, DraI, Mspl and Taql. Chmmosomalwcaliza!ion: Regionallocalizalion was established by hybridization to a panel of somatic cell hybrids: PgMe-25Nu, containing only human chromosome 22; PgMo-22 and IC8-17ANu, respectively containing both products of the Philadelphia translocation at 22ql 1; A3EW2-]8, containing the t(lI:22) from Ewing's sarcoma (at 22q12) and 1122 AM27 containing a t((;22) at 22ql3 (I, 2). The probe was assigned to chromosome 22 between 22pter and 22ql L Mendelian Inheritance: Mendelian inheritance has been demonstrated in extended pedigrees of Gilles de la TOllrette syndrome families (n = ]80). Probe Ami/abiliTY: Available for collaboration. References: I) Goyns.M.H., YOllflg,8.D., Geurts van Kessel,A., de Klein,A., Gros~'eld,G., Bartram,C.R. and Bootsma,D. (1984) Leukemia Res. 8, 547-553. 2) Geurts van Kessel,A., Turc Carel,C., de Klein.A .. Grosveld,G .. lenoir,G. and Bootsma,D. (1985) Mol. Cdl Bioi. S, 427-429. SourcelDescn'prion: NDI29 is a 0.6 kb HindllI-EcoRl fragment isolated from twO pooled chromosome 22 specific libraries (AT CC # 5773] and ATCC # 57714) and is subdoned into pUC9. Polymorphism: Pst! digestion of genomic DNA and hybridization with the probe detects a two allele polymorphism: 1.6 kb (AI) and 1.3 kb (Al). No constant bands were present. Frequcncy: Estimated from 98 unrelated Caucasians AI: 0.45 Al: 0.55. Not Polymorphic For: Bgll, BglII, DraI, MspI and TaqI. Olromosonlalwcaliza.tion: Regionallocaliz.ation was established by hybridization to a panel of somatic cell hybrids: pgMe-25Nu, containing only human chromosome 22; PgMo-22 and ICB-17ANu, respectively containing both products of the Philadelphia translocation at 22qI I; A3EW2 - ]B, containing the t(lI;22) from Ewing's sarcoma (at 22q12) and 1122 AM27 containing a t(I;22) at 22qI3 (I, 2). The probe was assigned to the long arm of chromosome 22 between 22qll and 22q12. Mendelian Inhcritance: Mendelian inheritance has been demonstrated in extended pedigrees of Gilles ,de la Tourette syndrome families (n =:0 380). Probe Amilability: Available for collaboration. References: 1) aoyns,M.H., Young,B.D., Geurts van Kessel,A., de K1ein,A., Grosveld,G., Bartram,C.R. and Bootsma,D. (1984) Leukemia Res. 8, 547-55]. 2) Geurts van Kessel,A., Turc Carel,C., de Klein,A., Grosveld,G" Lenoir,G. and Bootsma,D. (1985) Mol. Cell Bioi. 5, 427-429. 62
Nucleic Acids Research, Vol, 19, No, 8 A new polymorphic probe on chromosome 22: NB5 (D22S201) R,H,Lekanne Deprez', NAvan Blezen, G.J.Breedveld l , K.R.G.S.Boejharal, A.de K1ein 2 , A.H.M.Geurts van Kessel 3 and E,C.Zwarthoff Departments of Pathology, !C!inicaJ Genetics and 2Cell Biology and Genetics, Erasmus University and 3Department of Human Genetics. University of Nijmegen. The Netherlands SOl/rce/Description: NBS is a O.S kb HindIII-&oRJ fragment isolated from two pooled chromosome 22 spedfic libraries (AT CC # 57733 and ATCC # 57714) and \\o"ES subcloned intopUC9. Pol)morphism: Taql digestion of genomic DNA and hybridization with the probe dele.::ts a four allele polymorphism: 1,75 kb (AI), 1.6 kb (Al), 1.4 kb (A3) and 1.3 kb (A4). No constant bands were present. Frequency: Estimated from 97 unrelated Caucasians. Al : 0.072 Al : 0.86 A3 : 0.OS2 A4 : 0.015 NOI Pol}1/Iorphic For. BgII, SgiII, Oral, Mspl and PstI. O"onwsomal iAcaliwtion: Regional localization was established by hybridization to a panel of somatic cell hybrids: PgMe-25Nu, containing only human chromosome 22; PgMo-22 and ICB-17ANu, respectively containing both products of the Philadelphia translocation at 22qll; A3EW2-3B, containing the 1(11;22) from Ewing's sarcoma (at 22q12) and 1122 AM27 containing a t(1;22) at 22ql3 (I, 2). The probe was assigned to chromosome 22 between 22ql3 and 22qter. Mendelian 1nhedtance: Mendelian inheritance has been demonstrated in extended pedigrees of Gilles de la TOllrette syndrome families (n = 380). Probe Mailabiliry: Available for collaboration. References: I)Goyns,M.H., Young,B.D., Geurts van Kessel.A., de Klein,A., Grosveld,G., Bartram,C.R. and Dootsma,D. (19&4) Leukemia Res. 8, 547-553. 2)Geurts van Kessel,A., Turc Carel,C., de Klein,A., Grosve!d,G., Lenoir,G. and Bootsma,D. (1985) Mol. Cell Bioi. S,427-429. 63
Page 1:
GENES ON CHROMOSOME 22 INVOLVED IN
Page 4 and 5:
PROMOTmCOMMIssm Promotor: Prof. Dr.
Page 6 and 7:
Contents List of abbreviations 9 Ch
Page 9:
List of abbreviations APC bp DCC FA
Page 13 and 14: 1 Cancer is a genetic disease It is
Page 15 and 16: transformation came from somatic ce
Page 17 and 18: to tumorigenesis if a mutation inac
Page 19 and 20: is that this interaction inactivate
Page 21 and 22: endogenous wt p53 by forming mixed
Page 23 and 24: Recent studies in these families ha
Page 25 and 26: In about 15% of all colon tumors an
Page 27 and 28: e explained by assuming that the nu
Page 29 and 30: 3.6 The NFl gene Neurofibromatosis
Page 31 and 32: 4 MENINGIOMA 4.1 Cells of origin In
Page 33 and 34: fossa and foramen magnum), convexit
Page 35 and 36: early cell cultures the presence of
Page 37 and 38: gene (Dumanski et aI., NNFF consort
Page 39 and 40: et aI., 1991b; Larsson et aI., 1990
Page 41 and 42: 6 References Aaltonen LA, Peltomiik
Page 43 and 44: (1988) SV40 large tumor antigen for
Page 45 and 46: Haber DA, Buckler AJ, Glaser T, Cal
Page 47 and 48: carcinomas. Genes Chrom Cancer 2:19
Page 49 and 50: Pelletier J, Breunin~ W, Kashtan CE
Page 51 and 52: Stratton MR, Darling J, Lantos PL,
Page 53: Chapter II Isolatioll alld characte
Page 56 and 57: SHORT COMMUNICATION TABLE 1 Charact
Page 59: Appendix A lIew polymorphic probe 0
Page 65: Chapter III Cytogenetic, molecular
Page 68 and 69: Introduction Meningiomas are consid
Page 70 and 71: defined by evaluating 6 histologica
Page 72 and 73: number of clonal chromosomal abnorm
Page 74 and 75: #22 status No. Sex/Age (yr) Site of
Page 76 and 77: #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
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Putative Tumor-suppressor Gene in M
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Page 117 and 118:
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Chapter VI Molecular clolling of a
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Molecular Cloning of a Gene Disrupt
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to playa role in the development of
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total sheared human genomic DNA bef
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Genomic cosmid contig spanning the
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probe A is conserved in hamster DNA
Page 131 and 132:
Southerll, 1l0l1hern blots and evol
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The evolutionary conservation of th
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A " l ... aGAP~RAGC EPOV~SR~AGQGE ;
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postulates that the first AUG codon
Page 139 and 140:
Bijlsma EK, Brouwer~Mladin R, Bosch
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Tanaka N, Nishisho I, Yamamoto 1'.1
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Chapter VII Constitutional DNA-leve
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GENES, CHROMOSOMES & CANCER 9;124-1
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LfKANNf DfPREZ fT AL TABLE I. Cytog
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LEKANNE DEPRF2 ET AL could be that
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Chapter VIII Frequent NF2 gene tran
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Am.'. HIIIII. Gellet. 54:1022-1029,
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Lekanne Deprez ct al. Table I Oligo
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Table 2 Nfl Gene-Transcript Mutatio
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Lebnne Deprez et lli. observed at a
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Summary and Discussion Meningioma i
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translocation (Chapter V). These hy
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were derived from patients with mor
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Samenvatting Meningeomen zUn goedaa
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het gebied rondom het MNI gen te be
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Curriculum vitae 30 juni 1965 gebor
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List of publications I) van 't Veer
Page 175 and 176:
Nawoord Dit boekje is 101 sland gek
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