Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome

被引:12
作者
Catchpoole, D
Smallwood, AV
Joyce, JA
Murrell, A
Lam, W
Tang, T
Munroe, D
Reik, W
Schofield, PN
Maher, ER [1 ]
机构
[1] Univ Birmingham, Dept Paediat & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England
[2] Univ Cambridge, Dept Pathol, Cambridge CB2 1QP, England
[3] Univ Cambridge, Dept Anat, Lab Stem Cell Biol, Cambridge, England
[4] Babraham Inst, Lab Dev Genet & Imprinting, Cambridge, England
[5] Genos Biosci, La Jolla, CA 92037 USA
关键词
D O I
10.1136/jmg.37.3.212
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:212 / 215
页数:4
相关论文
共 36 条
[1]   THE PRODUCT OF THE H19 GENE MAY FUNCTION AS AN RNA [J].
BRANNAN, CI ;
DEES, EC ;
INGRAM, RS ;
TILGHMAN, SM .
MOLECULAR AND CELLULAR BIOLOGY, 1990, 10 (01) :28-36
[2]   Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway [J].
Brown, KW ;
Villar, AJ ;
Bickmore, W ;
ClaytonSmith, J ;
Catchpoole, D ;
Maher, ER ;
Reik, W .
HUMAN MOLECULAR GENETICS, 1996, 5 (12) :2027-2032
[3]   Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster [J].
Caspary, T ;
Cleary, MA ;
Baker, CC ;
Guan, XJ ;
Tilghman, SM .
MOLECULAR AND CELLULAR BIOLOGY, 1998, 18 (06) :3466-3474
[4]   Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome [J].
Catchpoole, D ;
Lam, WWK ;
Valler, D ;
Temple, IK ;
Joyce, JA ;
Reik, W ;
Schofield, PN ;
Maher, ER .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (05) :353-359
[5]   Novel transcribed sequences within the BWS/WT2 region in 11p15.5: Tissue-specific expression correlates with cancer type [J].
Crider-Miller, SJ ;
Reid, LH ;
Higgins, MJ ;
Nowak, NJ ;
Shows, TB ;
Futreal, PA ;
Weissman, BE .
GENOMICS, 1997, 46 (03) :355-363
[6]  
EKSBERG R, 1993, NAT GENET, V5, P143
[7]   BECKWITH-WIEDEMANN SYNDROME [J].
ELLIOTT, M ;
MAHER, ER .
JOURNAL OF MEDICAL GENETICS, 1994, 31 (07) :560-564
[8]   Genomic imprinting: A chromatin connection [J].
Feil, R ;
Kelsey, G .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) :1213-1219
[9]   Loss of the maternal H19 gene induces changes in Igf2 methylation in both cis and trans [J].
Forne, T ;
Oswald, J ;
Dean, W ;
Saam, JR ;
Bailleul, B ;
Dandolo, L ;
Tilghman, SM ;
Walter, J ;
Reik, W .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (19) :10243-10248
[10]   An imprinted gene p57(KIP2) is mutated in Beckwith-Wiedemann syndrome [J].
Hatada, I ;
Ohashi, H ;
Fukushima, Y ;
Kaneko, Y ;
Inoue, M ;
Komoto, Y ;
Okada, A ;
Ohishi, S ;
Nabetani, A ;
Morisaki, H ;
Nakayama, M ;
Niikawa, N ;
Mukai, T .
NATURE GENETICS, 1996, 14 (02) :171-173