Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

被引：209

作者：

Lemmers, RJLF

de Kievit, P

Sandkuijl, L

Padberg, GW

van Ommen, GJB

Frants, RR

van der Maarel, SM

机构：

[1] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, Dept Human Genet, NL-2333 AL Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Med Stat, Leiden, Netherlands

[3] Univ Med Ctr Nijmegen, Dept Neurol, Nijmegen, Netherlands

来源：

NATURE GENETICS | 2002年 / 32卷 / 02期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng999

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.

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页码：235 / 236

页数：2

相关论文

共 12 条

[1] LINKAGE IN HUMAN HETEROCHROMATIN BETWEEN HIGHLY DIVERGENT SAU3A REPEATS AND A NEW FAMILY OF REPEATED DNA-SEQUENCES (HAEIII FAMILY) [J].

AGRESTI, A ;

MENEVERI, R ;

SICCARDI, AG ;

MAROZZI, A ;

CORNEO, G ;

GAUDI, S ;

GINELLI, E .

JOURNAL OF MOLECULAR BIOLOGY, 1989, 205 (04) :625-631

[2] THE DETECTION OF SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN IDIOPATHIC MENTAL-RETARDATION [J].

FLINT, J ;

WILKIE, AOM ;

BUCKLE, VJ ;

WINTER, RM ;

HOLLAND, AJ ;

MCDERMID, HE .

NATURE GENETICS, 1995, 9 (02) :132-140

[3] Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle [J].

Gabellini, D ;

Green, MR ;

Tupler, R .

CELL, 2002, 110 (03) :339-348

[4] Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element [J].

Gabriëls, J ;

Beckers, MC ;

Ding, H ;

De Vriese, A ;

Plaisance, S ;

van der Maarel, SM ;

Padberg, GW ;

Frants, RR ;

Hewitt, JE ;

Collen, D ;

Belayew, A .

GENE, 1999, 236 (01) :25-32

[5] Human centromeric DNAs [J].

Lee, C ;

Wevrick, R ;

Fisher, RB ;

FergusonSmith, MA ;

Lin, CC .

HUMAN GENETICS, 1997, 100 (3-4) :291-304

[6] The complex structure and dynamic evolution of human subtelomeres [J].

Mefford, HC ;

Trask, BJ .

NATURE REVIEWS GENETICS, 2002, 3 (02) :91-102

[7] Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes [J].

Trask, BJ ;

Friedman, C ;

Martin-Gallardo, A ;

Rowen, L ;

Akinbami, C ;

Blankenship, J ;

Collins, C ;

Giorgi, D ;

Iadonato, S ;

Johnson, F ;

Kuo, WL ;

Massa, H ;

Morrish, T ;

Naylor, S ;

Nguyen, OTH ;

Rouquier, S ;

Smith, T ;

Wong, DJ ;

Youngblom, J ;

van den Engh, G .

HUMAN MOLECULAR GENETICS, 1998, 7 (01) :13-26

[8] Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin [J].

van Geel, M ;

Dickson, MC ;

Beck, AF ;

Bolland, DJ ;

Frants, RR ;

van der Maarel, SM ;

de Jong, PJ ;

Hewitt, JE .

GENOMICS, 2002, 79 (02) :210-217

[9] Identification of a novel β-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35 [J].

van Geel, M ;

van Deutekom, JCT ;

van Staalduinen, A ;

Lemmers, RJLF ;

Dickson, MC ;

Hofker, MH ;

Padberg, GW ;

Hewitt, JE ;

de Jong, PJ ;

Frants, RR .

CYTOGENETICS AND CELL GENETICS, 2000, 88 (3-4) :316-321

[10]

van Overveld PGM, 2000, HUM MOL GENET, V9, P2879