Imprinted genes and human disease

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 3, 2010, Pages 317-320

  Weksberg, Rosanna ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Epigenetics; Human disease; Imprinted genes

Indexed keywords

DNA; SMALL NUCLEOLAR RIBONUCLEOPROTEIN; TRANSCRIPTION FACTOR;

ALLELE; BIOINFORMATICS; CHILD; CHROMOSOME 15Q; CHROMOSOME 20; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DNA METHYLATION; EPIGENETICS; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOME IMPRINTING; GERM LINE; HAPPY PUPPET SYNDROME; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RECURRENCE RISK; REVIEW; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY; BIOLOGY; CHROMOSOME DISORDER; GENETIC EPIGENESIS; GENETICS; MEDICAL GENETICS;

CHROMOSOME DISORDERS; COMPUTATIONAL BIOLOGY; EPIGENESIS, GENETIC; GENETICS, MEDICAL; GENOMIC IMPRINTING; HUMANS;

EID: 77955886095     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30268     Document Type: Review

References (17)

1. Akbarian S, Huang HS. 2009. Epigenetic regulation in human brain-focus on histone lysine methylation. Biol Psychiatry 65:198-203.
2. Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. 2009. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 18:4724-4733.
3. Berger SL, Kouzarides T, Shiekhattar R, Shilatifard A. 2009. An operational definition of epigenetics. Genes Dev 23:781-783.
4. Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A. 2009. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 17:611-619.
5. da Rocha ST, Tevendale M, Knowles E, Takada S, Watkins M, Ferguson-Smith AC. 2007. Restricted co-expression of Dlk1 and the reciprocally imprinted non-coding RNA, Gtl2: Implications for cis-acting control. Dev Biol 306:810-823. (Pubitemid 46873526)
6. de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI. 2009. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet 18:3257-3265.
7. Gomes MV, Huber J, Ferriani RA, Amaral Neto AM, Ramos ES. 2009. Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies. Mol Hum Reprod 15:471-477.
8. Hawkins RD, Hon GC, Lee LK, Ngo Q, Lister R, Pelizzola M, Edsall LE, Kuan S, Luu Y, Klugman S, Antosiewicz-Bourget J, Ye Z, Espinoza C, Agarwahl S, Shen L, Ruotti V, Wang W, Stewart R, Thomson JA, Ecker JR, Ren B. 2010. Distinct epigenomic landscapes of pluripotent and lineage-committed human cells. Cell Stem Cell 6:479-491.
9. Katari S, Turan N, Bibikova M, Erinle O, Chalian R, Foster M, Gaughan JP, Coutifaris C, Sapienza C. 2009. DNA methylation and gene expression differences in children conceived in vitro or in vivo. Hum Mol Genet 18:3769-3778.
10. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. 2002. The human genome browser at UCSC. Genome Res 12:996-1006.
11. Koerner MV, Pauler FM, Huang R, Barlow DP. 2009. The function of non-coding RNAs in genomic imprinting. Development 136:1771-1783.
12. Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER. 2009. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 24:741-747.
13. Lister R, Pelizzola M, Dowen RH, Hawkins RD, Hon G, Tonti-Filippini J, Nery JR, Lee L, Ye Z, Ngo QM, Edsall L, Antosiewicz-Bourget J, Stewart R, Ruotti V, Millar AH, Thomson JA, Ren B, Ecker JR. 2009. Human DNA methylomes at base resolution show widespread epigenomic differences. Nature 462:315-322.
14. Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. 2008. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 40:949-951.
15. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. 2008. Prader-Willi phenotype caused by paternal deficiency for the HBII-85C/D box small nucleolar RNA cluster. Nat Genet 40:719-721. (Pubitemid 351748873)
16. Tierling S, Souren NY, Gries J, LoPorto C, Groth M, Lutsik P, Neitzel H, Utz-Billing I, Gillessen-Kaesbach G, Kentenich H, Griesinger G, Sperling K, Schwinger E, Walter J. 2010. Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. J Med Genet 47:371-376.
17. Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei Y-L, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. 2002. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 11:1317-1325. (Pubitemid 34555529)