DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1

被引：0
|
作者：
K. Nichol Edamura
C. E. Pearson
机构：
[1] The Hospital for Sick Children,Program of Genetics & Genomic Biology
[2] University of Toronto,Program of Molecular & Medical Genetics
来源：
Human Genetics | 2005年 / 118卷
关键词：
Deletion Event; Repeat Tract; Deletion Frequency; Primate Replication; Deletion Product;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Expansion and hyper-methylation of a CGG repeat tract are the main causes of fragile X syndrome (FRAXA). In some rare instances, FRAXA patients harbor not only an expanded CGG tract, but a deletion encompassing the CGG repeat and flanking sequences as well. Through the use of an SV40 primate replication system, it was possible to determine that CpG methylation and DNA replication may actually mediate the formation of these rare events. Also, the genetically stabilizing AGG interruptions can be lost by replication-mediated CGG deletions.
引用
收藏
页码：301 / 304
页数：3
相关论文
共 50 条
  • [41] METHYLATION ANALYSIS OF CGG SITES IN THE CPG ISLAND OF THE HUMAN FMR1 GENE
    HANSEN, RS
    GARTLER, SM
    SCOTT, CR
    CHEN, SH
    LAIRD, CD
    HUMAN MOLECULAR GENETICS, 1992, 1 (08) : 571 - 578
  • [42] FOLLOWING PREVIOUSLY DESCRIBED OVARIAN PHENOTYPES OF THE FMR1 GENE, METHYLATION FRACTIONS WERE SIGNIFICANTLY SKEWED BETWEEN FMR1 GENOTYPES AND SUB-GENOTYPES.
    Barad, D. H.
    Latham, G. J.
    Filipovic-Sadie, S.
    Kushnir, V. A.
    Shohat-Tal, A.
    Gleicher, N.
    FERTILITY AND STERILITY, 2013, 100 (03) : S345 - S345
  • [43] CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles
    Pretto, Dalyir I.
    Mendoza-Morales, Guadalupe
    Lo, Joyce
    Cao, Ru
    Hadd, Andrew
    Latham, Gary J.
    Durbin-Johnson, Blythe
    Hagerman, Randi
    Tassone, Flora
    JOURNAL OF MEDICAL GENETICS, 2014, 51 (05) : 309 - 318
  • [44] Methylation of a novel FMR1 epigenetic element depends on women ovarian reserve
    Youness, B.
    Dietrich, J.
    Strowitzki, T.
    Vogt, P. H.
    Rehnitz, J.
    HUMAN REPRODUCTION, 2016, 31 : 86 - 86
  • [45] HIGH-RESOLUTION METHYLATION ANALYSIS OF THE FMR1 GENE TRINUCLEOTIDE REPEAT REGION IN FRAGILE X-SYNDROME
    HORNSTRA, IK
    NELSON, DL
    WARREN, ST
    YANG, TP
    HUMAN MOLECULAR GENETICS, 1993, 2 (10) : 1659 - 1665
  • [46] Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome
    Yudkin, Dmitry
    Hayward, Bruce E.
    Aladjem, Mirit I.
    Kumari, Daman
    Usdin, Karen
    HUMAN MOLECULAR GENETICS, 2014, 23 (11) : 2940 - 2952
  • [47] Detection of FMR1 genotypes, sex chromosome abnormalities, and deletion mutations by PCR products with an automated DNA sequencer.
    Winkler, M
    McGill, M
    Jones, L
    Tubman, T
    Hamdan, H
    Fenwick, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A413 - A413
  • [48] Implications of the FMR1 gene in menopause:: study of 147 Spanish women
    Mallolas, J
    Duran, M
    Sánchez, A
    Jiménez, D
    Castellví-Bel, S
    Rifé, M
    Milà, M
    MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY, 2001, 8 (02): : 106 - 110
  • [49] FMR1 deletion in rats induces hyperactivity with no changes in striatal dopamine transporter availability
    Annunziata D’Elia
    Sara Schiavi
    Antonia Manduca
    Alessandro Rava
    Valeria Buzzelli
    Fabrizio Ascone
    Tiziana Orsini
    Sabrina Putti
    Andrea Soluri
    Filippo Galli
    Alessandro Soluri
    Maurizio Mattei
    Rosella Cicconi
    Roberto Massari
    Viviana Trezza
    Scientific Reports, 12 (1)
  • [50] FRAGILE-X SYNDROME WITHOUT CCG AMPLIFICATION HAS AN FMR1 DELETION
    GEDEON, AK
    BAKER, E
    ROBINSON, H
    PARTINGTON, MW
    GROSS, B
    MANCA, A
    KORN, B
    POUSTKA, A
    YU, S
    SUTHERLAND, GR
    MULLEY, JC
    NATURE GENETICS, 1992, 1 (05) : 341 - 344
12345