SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia

被引：191

作者：

Patel, H ^{[1
]}

Cross, H ^{[1
]}

Proukakis, C ^{[1
]}

Hershberger, R ^{[1
]}

Bork, P ^{[1
]}

Ciccarelli, FD ^{[1
]}

Patton, MA ^{[1
]}

McKusick, VA ^{[1
]}

Crosby, AH ^{[1
]}

机构：

[1] Univ London St Georges Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England

来源：

NATURE GENETICS | 2002年 / 31卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng937

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20, encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.

引用

页码：347 / 348

页数：2

共 14 条

[1] Endosomal transport function in yeast requires a novel AAA-type ATPase, Vps4p [J].

Babst, M ;

Sato, TK ;

Banta, LM ;

Emr, SD .

EMBO JOURNAL, 1997, 16 (08) :1820-1831

[2] Overexpression of a novel sorting nexin, SNX15, affects endosome morphology and protein trafficking [J].

Barr, VA ;

Phillips, SA ;

Taylor, SI ;

Haft, CR .

TRAFFIC, 2000, 1 (11) :904-916

[3] Cruising along microtubule highways: How membranes move through the secretory pathway [J].

Bloom, GS ;

Goldstein, LSB .

JOURNAL OF CELL BIOLOGY, 1998, 140 (06) :1277-1280

[4] Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [J].

Carstea, ED ;

Morris, JA ;

Coleman, KG ;

Loftus, SK ;

Zhang, D ;

Cummings, C ;

Gu, J ;

Rosenfeld, MA ;

Pavan, WJ ;

Krizman, DB ;

Nagle, J ;

Polymeropoulos, MH ;

Sturley, SL ;

Ioannou, YA ;

Higgins, ME ;

Comly, M ;

Cooney, A ;

Brown, A ;

Kaneski, CR ;

BlanchetteMackie, EJ ;

Dwyer, NK ;

Neufeld, EB ;

Chang, TY ;

Liscum, L ;

Strauss, JF ;

Ohno, K ;

Zeigler, M ;

Carmi, R ;

Sokol, J ;

Markie, D ;

ONeill, RR ;

vanDiggelen, OP ;

Elleder, M ;

Patterson, MC ;

Brady, RO ;

Vanier, MT ;

Pentchev, PG ;

Tagle, DA .

SCIENCE, 1997, 277 (5323) :228-231

[5] TROYER SYNDROME - A RECESSIVE FORM OF SPASTIC PARAPLEGIA WITH DISTAL MUSCLE WASTING [J].

CROSS, HE ;

MCKUSICK, VA .

ARCHIVES OF NEUROLOGY, 1967, 16 (05) :473-+

[6] Neuronal migration [J].

de Rouvroit, CL ;

Goffinet, AM .

MECHANISMS OF DEVELOPMENT, 2001, 105 (1-2) :47-56

[7] Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics [J].

Errico, A ;

Ballabio, A ;

Rugarli, EI .

HUMAN MOLECULAR GENETICS, 2002, 11 (02) :153-163

[8] TRANSLOCATION AND CLUSTERING OF ENDOSOMES AND LYSOSOMES DEPENDS ON MICROTUBULES [J].

MATTEONI, R ;

KREIS, TE .

JOURNAL OF CELL BIOLOGY, 1987, 105 (03) :1253-1265

[9] The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype [J].

Patel, H ;

Hart, PE ;

Warner, TT ;

Houlston, RS ;

Patton, MA ;

Jeffery, S ;

Crosby, AH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :209-215

[10] A conserved sorting-associated protein is mutant in chorea-acanthocytosis [J].

Rampoldi, L ;

Dobson-Stone, C ;

Rubio, JP ;

Danek, A ;

Chalmers, RM ;

Wood, NW ;

Verellen, C ;

Ferrer, X ;

Malandrini, A ;

Fabrizi, GM ;

Brown, R ;

Vance, J ;

Pericak-Vance, M ;

Rudolf, G ;

Carrè, S ;

Alonso, E ;

Manfredi, M ;

Németh, AH ;

Monaco, AP .

NATURE GENETICS, 2001, 28 (02) :119-120

← 1 2 →