Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

BMC Genomics

Volumn 4, Issue , 2003, Pages

  Sutcliffe, James S ^a   Han, Michael K ^a   Amin, Taneem ^a   Kesterson, Robert A ^a   Nurmi, Erika L ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; BINDING PROTEIN; PROTEIN APBA2; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANIMAL TISSUE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CONTROLLED STUDY; EMBRYO; EXON; GENE EXPRESSION PROFILING; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC CODE; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; MOUSE; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING; TELOMERE;

EID: 9444224973     PISSN: 14712164     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2164-4-15     Document Type: Article

References (25)

1. Ji Y, Eichler EE, Schwartz S and Nicholls RD Structure of chromosomal duplicons and their role in mediating human genomic disorders Genome Res. 2000, 10:597-610
2. Ledbetter DH and Ballabio A Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance In: The Metabolic and Molecular Basis of Inherited Disease (Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D) New York: Mc-Graw Hill 1995, 811-839
3. Nicholls RD and Knepper JL Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes Ann Rev Genomics Hum Genet 2001, 2:153-75
4. Jiang YH, Tsai TF, Bressler J and Beaudet AL Imprinting in Angelman and Prader-Willi Syndromes Curr Opin Genet Dev 1998, 8:334-342
5. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C and Courchesne E Autism or atypical autism in maternally but not paternally derived proximal 15q duplication Am J Hum Genet 1997, 60:928-34
6. Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ and Jacobs P The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders Am J Med Genet 2001, 105:675-85
7. Roberts SE, Dennis NR, Browne CE, Willatt L, Woods G, Cross I, Jacobs PA and Thomas S Characterisation of interstitial duplications and triplications of chromosome 15q11-q13 Hum Genet 2002, 110:227-34
8. Huang B, Crolla JA, Christian SL, Wolf-Led better ME, Macha ME, Papenhausen PN and Ledbetter DH Refined Molecular Characterization Of the Breakpoints In Small Inv Dup(15) Chromosomes Hum Genet 1997, 99:11-17
9. Robinson WP, Binkert F, Gine R, Vazquez C, Muller W, Rosenkranz W and Schinzel A Clinical and molecular analysis of five inv dup(15) patients Eur J Hum Genet 1993, 1:37-50
10. Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME and Malcolm S Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome J Med Genet 1993, 30:529-31
11. Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S and Gorski JL Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation Am J Med Genet 1996, 61:182-7
12. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A and Robinson WP Intrachromosomal triplication of 15q11-q13 J Med Genet 1994, 31:798-803
13. Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB and Ledbetter DH Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 J Med Genet 2001, 38:26-34
14. Christian SL, Robinson WP, Huang B, Mutirangura A, Line MR, Nakao M, Surti U, Chakravarti A and Ledbetter DH Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients Am J Hum Genet 1995, 57:40-8
15. Christian SL, Fantes JA, Mewborn SK, Huang B and Ledbetter DH Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13) Hum Mol Genet 1999, 8:1025-1037
16. Amos-Landgraf JM, Ji YG, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S and Nicholls RD Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints Am J Hum Genet 1999, 65:370-386
17. Ji YG, Walkowicz MJ, Buiting K, Johnson DK, Tarvin RE, Rinchik EM, Horsthemke B, Stubbs L and Nicholls RD The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities Hum Mol Genet 1999,8:533-542
18. Pujana MA, Nadal M, Gratacos M, Peral B, Csiszar K, Gonzalez-Sarmiento R, Sumoy L and Estivill X Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26 Genome Res 2001, 11:98-111
19. Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M and Estivill X Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons Eur J Hum Genet 2002, 10: 6-35
20. Blanco G, Irving NG, Brown SD, Miller CC and McLoughlin DM Mapping of the human and murine XH-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosinebinding domain proteins that interact with the Alzheimer's disease amyloid precursor protein Mamm Genome 1998, 9:473-5
21. Maddox LO, Menold MM, Bass MP, Rogala AR, Pericak-Vance MA, Vance JM and Gilbert JR Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig Genomics 1999, 62:325-31
22. Christian SL, Bhatt NK, Martin SZ, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL and Ledbetter DH Integrated Yac Contig Map of the Prader-Willi/Angelman Region On Chromosome 15q11-Q13 With Average Sts Spacing of 35 Kb Genome Res 1998, 8:146-157
23. Biederer T and Sudhof TC Mints as adaptors. Direct binding to neurexins and recruitment of munc 8 J Biol Chem 2000, 275: 9803-6
24. Gault J, Robinson M, Berger R, Drebing C, Logel J, Hopkins J, Moore T, Jacobs S, Meriwether J and Choi MJ Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7) Genomics 1998, 52:173-85
25. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N and Ohara O Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro DNA Res 1998, 5:31-9