Uniparental disomy in cancer

被引:130
作者
Tuna, Musaffe [1 ]
Knuutila, Sakari [2 ,3 ,4 ]
Mills, Gordon B. [5 ]
机构
[1] Univ Texas MD Anderson Canc Ctr, Dept Canc Genet, Houston, TX 77030 USA
[2] Univ Helsinki, Haartman Inst, Dept Pathol, FI-00014 Helsinki, Finland
[3] Univ Helsinki, HUSLAB, FI-00014 Helsinki, Finland
[4] Univ Helsinki, Cent Hosp, FI-00014 Helsinki, Finland
[5] Univ Texas MD Anderson Canc Ctr, Dept Syst Biol, Houston, TX 77030 USA
关键词
ACUTE MYELOID-LEUKEMIA; NUCLEOTIDE POLYMORPHISM ANALYSIS; BECKWITH-WIEDEMANN-SYNDROME; TYROSINE KINASE JAK2; GENOME-WIDE ANALYSIS; COPY-NEUTRAL LOH; POLYCYTHEMIA-VERA; CHROMOSOME; 11P15; GENOTYPING MICROARRAYS; HETEROZYGOSITY;
D O I
10.1016/j.molmed.2009.01.005
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Uniparental disomy (UPD) results when both copies of a chromosome pair originate from one parent. In humans, this might result in developmental disease or cancer due to either the production of homozygosity (caused by mutated or methylated genes or by microRNA sequences) or an aberrant pattern of imprinting. Constitutional UPD is associated with meiotic errors, resulting in developmental diseases, whereas acquired UPD probably occurs as a result of a mitotic error in somatic cells, which can be an important step in cancer development and progression. This review summarizes the mechanisms underlying UPD and their emerging association with cancer.
引用
收藏
页码:120 / 128
页数:9
相关论文
共 58 条
[1]   A review of known imprinting syndromes and their association with assisted reproduction technologies [J].
Amor, David J. ;
Halliday, Jane .
HUMAN REPRODUCTION, 2008, 23 (12) :2826-2834
[2]   Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].
Baxter, EJ ;
Scott, LM ;
Campbell, PJ ;
East, C ;
Fourouclas, N ;
Swanton, S ;
Vassiliou, GS ;
Bench, AJ ;
Boyd, EM ;
Curtin, N ;
Scott, MA ;
Erber, WN ;
Green, AR .
LANCET, 2005, 365 (9464) :1054-1061
[3]   Gene expression profiling of CD34+ cells in patients with the 5q-syndrome [J].
Boultwood, Jacqueline ;
Pellagatti, Andrea ;
Cattan, Helen ;
Lawrie, Charles H. ;
Giagounidis, Aristoteles ;
Malcovati, Luca ;
Della Porta, Matteo G. ;
Jaedersten, Martin ;
Killick, Sally ;
Fidler, Carrie ;
Cazzola, Mario ;
Hellstroem-Lindberg, Eva ;
Wainscoat, James S. .
BRITISH JOURNAL OF HAEMATOLOGY, 2007, 139 (04) :578-589
[4]   High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors:: Four cases of homozygous deletions of the CDKN2A gene [J].
Caren, Helena ;
Erichsen, Jennie ;
Olsson, Linda ;
Enerback, Charlotta ;
Sjoberg, Rose-Marie ;
Abrahamsson, Jonas ;
Kogner, Per ;
Martinsson, Tommy .
BMC GENOMICS, 2008, 9 (1)
[5]   Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour [J].
Cerrato, Flavia ;
Sparago, Angela ;
Verde, Gaetano ;
De Crescenzo, Agostina ;
Citro, Valentina ;
Cubellis, Maria Vittoria ;
Rinaldi, Maria Michela ;
Boccuto, Luigi ;
Neri, Giovanni ;
Magnani, Cinzia ;
D'Angelo, Paolo ;
Collini, Paola ;
Perotti, Daniela ;
Sebastio, Gianfranco ;
Maher, Eamonn R. ;
Riccio, Andrea .
HUMAN MOLECULAR GENETICS, 2008, 17 (10) :1427-1435
[6]   Combined single nucleotide polymorphism-based genomic mapping and global gene expression profiling identifies novel chromosomal imbalances, mechanisms and candidate genes important in the pathogenesis of T-cell prolymphocytic leukemia with inv(14)(q11q32) [J].
Duerig, J. ;
Bug, S. ;
Klein-Hitpass, L. ;
Boes, T. ;
Joens, T. ;
Martin-Subero, J. I. ;
Harder, L. ;
Baudis, M. ;
Duehrsen, U. ;
Siebert, R. .
LEUKEMIA, 2007, 21 (10) :2153-2163
[7]   A NEW GENETIC CONCEPT - UNIPARENTAL DISOMY AND ITS POTENTIAL EFFECT, ISODISOMY [J].
ENGEL, E .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 6 (02) :137-143
[8]   An epigenetic approach to cancer etiology [J].
Feinberg, Andrew P. .
CANCER JOURNAL, 2007, 13 (01) :70-74
[9]   Genome-wide detection of recurring sites of uniparental disomy in follicular and transformed follicular lymphoma [J].
Fitzgibbon, J. ;
Iqbal, S. ;
Davies, A. ;
O'Shea, D. ;
Carlotti, E. ;
Chaplin, T. ;
Matthews, J. ;
Raghavan, M. ;
Norton, A. ;
Lister, T. A. ;
Young, B. D. .
LEUKEMIA, 2007, 21 (07) :1514-1520
[10]   Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias [J].
Fitzgibbon, J ;
Smith, LL ;
Raghavan, M ;
Smith, ML ;
Debernardi, S ;
Skoulakis, S ;
Lillington, D ;
Lister, TA ;
Young, BD .
CANCER RESEARCH, 2005, 65 (20) :9152-9154