Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

Human Genetics

Volumn 103, Issue 5, 1998, Pages 600-607

  Barber, John C K ^a   Cross, Ian E ^b   Douglas, Fiona ^b   Nicholson, James C ^a   Moore, Kirk J ^a   Browne, Caroline E ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CENTROMERE; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; COMPUTER ANALYSIS; CONTROLLED STUDY; DNA HYBRIDIZATION; DNA POLYMORPHISM; FLUORESCENCE ANALYSIS; GENE AMPLIFICATION; GENE DUPLICATION; GENE MAPPING; HUMAN; HUMAN CELL; KARYOTYPE; NEUROFIBROMATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE;

ADOLESCENT; CHROMATIN; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; EUCHROMATIN; GENE AMPLIFICATION; GENE DOSAGE; GENES, NEUROFIBROMATOSIS 1; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; PEDIGREE; PSEUDOGENES;

EID: 0031767480     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050875     Document Type: Article

References (34)

1. Baker P, Piven J, Schwanz S, Patil S (1994) Brief report; duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 24:529-535
2. Berry R, McGavran L, Robinson J, Staley L (1987) Familial duplication of proximal 15q in Prader-Willi individual and her normal father. Am J Hum Genet 41 [Suppl]:A114-A114
3. Bertoni L, Attolini C, Tessera L, Mucciolo E, Giulotto E (1994) Telomeric and nontelomeric (TTAGCC)(n) sequences in gene amplification and chromosome stability. Genomics 24:53-62
4. Brookwell R, Veleba A (1987) Proximal 15q variant with normal phenotype in three unrelated individuals. Clin Genet 31:311-314
5. Browne CE, Dennis NR, Maher E, Long SL, Nicholson J (1997) Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 61:1342-1352
6. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA (1994) Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Neurol 36:736-742
7. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulmun C, Lord C (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934
8. Crolla JA, Harvey JF, Sitch FL, Dennis NR (1995) Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95:161-170
9. Daniel A (1979) Structural differences in reciprocal translocations. Hum Genet 51:171-182
10. Dutrillaux B, Laurent C, Couturier J, Lejeune J (1973) Coloration des chromosomes humains par 1'acridine orange apres traitment par le 5-bromodeoxyuridine. Comptes Rendus de l'Academie des Sciences (Paris) 276:3179-3181
11. ISCN (1995) An international system for human cytogenetic nomenclature. Mitelman F (ed) Karger, Basel
12. Jalal SM, Persons DL, Dewald GW, Lindor NM (1994) Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet 52:495-497
13. Kallioniemi O-P, Kallioniemi A, Piper J. Isola J, Waldman FM, Gray JW, Pinkel D (1994) Optimising comparative genomic hybridisation for analysis of DNA sequence copy number changes in solid tumours. Genes Chromosomes Cancer 10:231-243
14. Kehrer-Sawatzki H, Schwickardt T, Assum G, Rocchi M, Krone W (1997) A third neurofibromatosis type I (NF-1) pseudogene at chromosome 15q11.2. Hum Genet 100:595-600
15. Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW (1992) NF-1 related locus on chromosome 15. Genomics 13:1316-1318
16. Li Y, O'Connell P, Huntsman Breidenbach H, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskoehil D (1995) Genomic organization of the neurofibromatosis I gene (NF-1). Genomics 25:9-18
17. Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM (1991) Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 40:194-201
18. Mignon C, Parente F, Stavropoulou C, Collignon P, Moncla A, Turc-Carel C, Mattei M-G (1997) Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies. J Med Genet 34:217-222
19. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215-1215
20. Pinkel D, Landegent J, Collins C, Fuscoe J, Segnwes R, Lucas J, Gray J (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci U S A 85:9138-9142
21. Purandare SM, Breidenbach HH, Li Y, Zhu XL, Sawada S, Neil SM, Brothman A, White R, Cawthon R, Viskochil D (1995) Identification of neurofibromatosis 1 (NF-1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. Genomics 30:476-485
22. Regnier V, Meddeb M, Lecointre G, Richard F, Duverger A, Nguyen VC, Dutrillaux B, Bernheim A, Danglot G (1997) Emergence and scattering of multiple neurofibromatosis (NFl)-related sequences during hominoid evolution suggest a process of pericentromeric interehromosomal transposition. Hum Mol Genet 6:9-16
23. Ritchie JR, Mattei M-G, Lalande M (1998) A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications Hum Mol Genet 8(7):1253-1260
24. Robinson WP, Horsthemke B, Leonard S, Malcolm S, Morton C, Nicholls RD, Ritchie RJ, Rogan P, Schultz R, Schwartz S, Sharp J, Trent R, Wevrick R, Williamson M, Knoll JHM (1997) Report of the third international workshop on human chromosome 15 mapping 1996. Cytogenet Cell Genet 76:1-13
25. Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Pen∼aherrera M, Michaelis RC, Abeliovich D, Schinzel A A (1998) The mechanisms involved in formation of deletions and duplications of 15q11-q13.J Med Genet 35:130-136
26. Rouquier S, Taviaux,S, Trask BJ, Brand-Arpon V, van den Engh G, Demaille J, Giorgi D (1998) Distribution of olfactory receptor genes in the human genome. Nat Genet 18:243-250
27. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE (1998) Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 76:327-336
28. Shohat M, Shohat T, Rimoin DL, Mohandas T, Heckenlively J, Magenis RE, Davidson MB, Korenberg JR (1990) Rearrangement of chromosome 15 in the region q11.2->q12 in an individual with obesity syndrome and her normal mother. Am J Med Genet 37:173-177
29. Stallard R, Van Dyke D (1986) Familial duplications of proximal 15q in normal individuals. Am J Hum Genet 39 [Suppl]:133
30. H and D segments on chromosomes 15q11.2 and 16p11.2. Hum Mol Genet 3:853-860
31. Visakorpi T, Hyytinen E, Koivisto P, Tanner M, Keinänen R, Palmberg C, Palotie A, Tammela T, Isola J, Kallioniemi O-P (1995) In vivo amplification of the androgen receptor gene and progression of human prostate cancer. Nat Genet 9:401-406
32. Webb G, Krumins E, Eichenbaum S, Voullaire L, Earl E, Choo K (1989) Non C-banding variants in some normal families might be homogeneously staining regions. Hum Genet 82:59-62
33. Webber LM, Garson OM (1983) Fluorodeoxyuridine synchronization of bone marrow cultures. Cancer Genet Cytogenet 8:123-132
34. Wheater RF, Roberts SH (1987) An improved lymphocyte culture technique: deoxycitidine release of a thymidine block and use of a constant humidity chamber for slide making. J Med Genet 24:113-115