Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

Human Molecular Genetics

Volumn 12, Issue 8, 2003, Pages 849-858

  Gimelli, Giorgio ^a   Pujana, Miguel Angel ^b,j   Patricelli, Maria Grazia ^c   Russo, Silvia ^d   Giardino, Daniela ^d   Larizza, Lidia ^d,e   Cheung, Joseph ^f   Armengol, Lluís ^b   Schinzel, Albert ^g   Estivill, Xavier ^b,f,h   Zuffardi, Orsetta ^c,i  

^a G GASLINI INSTITUTE   (Italy)

^b CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^c UNIVERSITY OF PAVIA   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h UNIVERSITAT POMPEU FABRA   (Spain)

ⁱ FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^j DANA FARBER CANCER INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME IDENTIFICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE TRANSMISSION; DNA FLANKING REGION; FEMALE; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HAPPY PUPPET SYNDROME; HETEROZYGOSITY; HUMAN; HUMAN CELL; MOTHER CHILD RELATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGENY;

ANGELMAN SYNDROME; ANIMALS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HETEROZYGOTE; HUMANS; INVERSION, CHROMOSOME; MICE; MOTHERS;

EID: 0037447443     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg101     Document Type: Article

References (29)

1. Samonte, R.V. and Eichler, E.E. (2002) Segmental duplications and the evolution of the primate genome. Nat. Rev. Genet., 3, 65-72.
2. Stankiewicz, P. and Lupski, J.R. (2002) Molecular-evolutionary mechanisms for genomic disorders. Curr. Opin. Genet. Dev., 12, 312-319.
3. Emanuel, B.S. and Shaikh, T.H. (2001) Segmental duplications: an 'expanding' role in genomic instability and disease. Nat. Rev. Genet., 2, 791-800.
4. Giglio, S., Broman, K.W., Matsumoto, N., Calvari, V., Gimelli, G., Neumann, T., Ohashi, H., Voullaire, L., Larizza, D., Giorda, R. et al. (2001) Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am. J. Hum. Genet., 68, 874-883.
5. Giglio, S., Calvari, V, Gregato, G., Gimelli, G., Camanini, S., Giorda, R., Ragusa, A., Guerneri, S., Selicorni, A., Stumm, M. et al. (2002) Heterozygous submicroscopic inversions involving olfactory receptor - gene clusters mediate the recurrent t(4;8) (p16; p23) translocation. Am. J. Hum. Genet., 71, 276-285.
6. Osborne, L.R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.C. and Scherer, S.W. (2001) A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat. Genet., 29, 321-325.
7. Khan, N.L. and Wood, N.W. (1999) Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities. Curr. Opin. Neurol., 12, 149-154.
8. Kuwano, A., Mutirangura, A., Dittrich, B., Buiting, K., Horsthemke, B., Saitoh, S., Niikawa, N., Ledbetter, S.A., Greenberg, F., Chinault, A.C. et al. (1992) Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum. Mol. Genet., 1,417-425.
9. Knoll, J.H., Nicholls, R.D., Magenis, R.E., Glatt, K., Graham, J.M. Jr., Kaplan, L. and Lalande, M. (1990) Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am. J. Hum. Genet., 47, 149-155.
10. Christian, S.L., Fantes, J.A., Mewborn, S.K., Huang, B. and Ledbetter, D.H. (1999) Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum. Mol. Genet., 8, 1025-1037,
11. Amos-Landgraf, J.M., Ji, Y., Gottlieb, W., Depinet, T., Wandstrat, A.E., Cassidy, S.B., Driscoll, D.J., Rogan, P.K., Schwartz, S. and Nicholls, R.D. (1999) Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am. J. Hum. Genet., 65, 370-386.
12. Goodman, M. (1999) The genomic record of Humankind's evolutionary roots. Am. J. Hum. Genet., 64, 31-39.
13. Pujana, M.A., Nadal, M., Guitart, M., Armengol, L., Gratacòs, M. and Estivill, X. (2002) Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur. J. Hum. Genet., 10, 26-35.
14. Christian, S.L., Bhatt, N.K., Martin, S.A., Sutcliffe, J.S., Kubota, T., Huang, B., Mutirangura, A., Chinault, A.C., Beaudet, A.L. and Ledbetter, D.H. (1998) Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res., 8, 146-157.
15. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. and Lipman, D.J. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
16. Kokkonen, H. and Leisti, J. (2000) An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of de1(15)(q11q13) in a Finnish family. Hum. Genet., 107, 83-85.
17. Mewborn, S.K., Miley, N.L., Fantes, J.A., Brown, R.L., Butler, M.G., Christian, S.L. and Ledbetter, D.H. (2002) Breakpoint junction fragments in Prader-Willi and Angelman syndrome (PWS/AS) deletion patients reveal variable breakpoints within large duplicons. Am. J. Hum. Genet., 71 (Suppl.), 736.
18. Ritchie, R.J., Mattei, M.G. and Lalande, M. (1998) A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. Hum. Mol. Genet., 7, 1253-1260.
19. Riley, B., Williamson, M., Collier, D., Wilkie, H. and Makoff, A. (2002) A 3-Mb map of a large segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. Genomics, 79, 197-209.
20. Valero, M.C., de Luis, O., Cruces, J. and Perez Jurado, L.A. (2000) Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Genomics, 69, 1-13.
21. DeSilva, U., Elnitski, L., Idol, J.R., Doyle, J.L., Gan, W., Thomas, J.W., Schwartz, S., Dietrich, N.L., Beckstrom-Sternberg, S.M., McDowell, J.C. et al. (2002) Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. Genome Res., 12, 3-15.
22. Bundey, S., Hardy, C., Vickers. S., Kilpatrick, M.W and Corbett, J.A. (1994) Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev. Med. Child. Neurol., 36, 736-742.
23. Browne, C.E., Dennis, N.R., Maher, E., Long, F.L., Nicholson, J.C., Sillibourne, J. and Barber, J.C. (1997) Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am. J. Hum. Genet., 61, 1342-1352.
24. Cook, E.H. Jr., Lindgren, V., Leventhal, B.L., Courchesne, R., Lincoln, A., Shulman, C., Lord, C. and Courchesne, E. (1997) Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am. J. Hum. Genet., 60, 928-934.
25. Jobling, M.A., Williams, G.A., Schiebel, G.A., Pandya, G.A., McElreavey, G.A., Salas, G.A., Rappold, G.A., Affara, N.A. and Tyler-Smith, C. (1998) A selective difference between human Y-chromosomal DNA haplotypes. Curr. Biol., 8, 1391-1394.
26. Bonaglia, M.C., Giorda, R., Poggi, G., Raggi, M.E., Rossi, E., Baroncini, A., Giglio, S., Borgatti, R. and Zuffardi, O. (2000) Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q. Eur. J. Hum. Genet., 8, 597-603.
27. Estivill, X., Cheung, J., Pujana, M.A., Nakabayashi, K., Scherer, S.W. and Tsui, L.C. (2002) Chromosomal regions containing high-density and ambiguous-mapped single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Hum. Mol. Genet., 11, 1987-1995.
28. Cheung, J., Estivill, X., Razi, K., MacDonald, J.R., Lau, K., Tsui, L.-C. and Scherer, S.W. Genome-wide detection of segmental duplications and assembly errors in the human genome sequence. Genome Bio., in press.
29. Kozik, A., Kochetkova, E. and Michelmore, R. (2002) GenomePixelizer - a visualization program for comparative genomics within and between species. Bioinformatics, 18, 335-336.