Nonhomologous recombination leading to duplication of the PLP gene in Pelizaeus-Merzbacher disease: analysis of the DNA rearrangement breakpoints.

被引:0
|
作者
Iwaki, A
Ototsuji, M
Kurosawa, K
Howell, GR
Fukumaki, Y
机构
[1] Kyushu Univ, Inst Genet Informat, Fukuoka 812, Japan
[2] Wellcome Trust, Sanger Ctr, Hinxton, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2249
引用
收藏
页码:400 / 400
页数:1
相关论文
共 50 条
  • [21] POSSIBLE CRYPTIC SPLICE SITE FOUND IN THE PLP GENE IN A PATIENT WITH PELIZAEUS-MERZBACHER DISEASE
    PRATT, VM
    DLOUHY, SR
    HODES, ME
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 416 - 416
  • [22] A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
    Inoue, K
    Osaka, H
    Sugiyama, N
    Kawanishi, C
    Onishi, H
    Nezu, A
    Kimura, K
    Kimura, S
    Yamada, Y
    Kosaka, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (01) : 32 - 39
  • [23] A NOVEL MUTATION IN THE PROTEOLIPID PROTEIN GENE LEADING TO PELIZAEUS-MERZBACHER DISEASE
    OTTERBACH, B
    STOFFEL, W
    RAMAEKERS, V
    BIOLOGICAL CHEMISTRY HOPPE-SEYLER, 1993, 374 (01): : 75 - 83
  • [24] Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
    Wang, PJ
    Hwu, WL
    Lee, WT
    Wang, TR
    Shen, YZ
    PEDIATRIC NEUROLOGY, 1997, 17 (02) : 125 - 128
  • [25] Classic Pelizaeus-Merzbacher Disease in a Girl with an Unbalanced Chromosomal Translocation and Functional Duplication of PLP1
    Yiu, Eppie M.
    Farrell, Sandra A.
    Soman, Teesta
    MOVEMENT DISORDERS, 2009, 24 (14) : 2171 - 2172
  • [26] Toward the elucidation of the molecular mechanism of the genomic recombination feeding to duplication/deletion rearrangement associated with Pelizaeus-Merzbacher disease.
    Lupski, JR
    Takanashi, J
    Murayama, K
    Bird, TD
    Inoue, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A476 - A476
  • [27] The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series
    Trepanier, Angela M.
    Aguilar, Sienna
    Kamholz, John
    Laukka, Jeremy J.
    CLINICAL CASE REPORTS, 2023, 11 (09):
  • [28] Multiple fates of nascent PLP in a model of Pelizaeus-Merzbacher disease with increased PLP1 gene dosage
    McLaughlin, Mark
    Karim, Saadia
    Barrie, Jennifer
    McCulloch, Mailis
    Montague, Paul
    Edgar, Julia
    Anderson, Thomas
    Nave, Klaus
    Griffiths, Ian
    NEURON GLIA BIOLOGY, 2007, 2 : S92 - S92
  • [29] Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene
    Nagao, M
    Kadowaki, J
    JOURNAL OF HUMAN GENETICS, 1998, 43 (03) : 206 - 208
  • [30] NEW VARIANT IN EXON 3 OF THE PROTEOLIPID PROTEIN (PLP) GENE IN A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE
    PRATT, VM
    TROFATTER, JA
    LARSEN, MB
    HODES, ME
    DLOUHY, SR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03): : 642 - 646