MUTATION OF THE MYELIN PO GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B

被引：93

作者：

HAYASAKA, K ^{[1
]}

TAKADA, G ^{[1
]}

IONASESCU, VV ^{[1
]}

机构：

[1] UNIV IOWA HOSP & CLIN,DEPT PEDIAT,DIV MED GENET,IOWA CITY,IA 52242

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 09期

关键词：

D O I：

10.1093/hmg/2.9.1369

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We had previously reported that the mutations of the myelin Po gene were completely linked with Charcot - Marie - Tooth neuropathy type 1B (CMT1B) in two families. In this study we found a different mutation in another family with CMT1B. The mutation, a methionine substitution for isoleucine at amino acid position 30, is located in the extracellular domain, which constitutes an immunoglobulin domain responsible for the function of Po as an adhesion molecule. The results confirmed that Po is a gene responsible for CMT1B.

引用

页码：1369 / 1372

页数：4

共 30 条

[1] MOLECULAR-CLONING OF CDNAS THAT ENCODE THE CHICKEN PO PROTEIN - EVIDENCE FOR EARLY EXPRESSION IN AVIANS
BARBU, M
[J]. JOURNAL OF NEUROSCIENCE RESEARCH, 1990, 25 (01) : 143 - 151
[2] BIRD TD, 1982, AM J HUM GENET, V34, P388
[3] CHANCE PF, 1990, AM J HUM GENET, V47, P915
[4] ANALYSIS OF THE DNA DUPLICATION 17P11.2 IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1 PEDIGREES - ADDITIONAL EVIDENCE FOR A 3RD AUTOSOMAL CMT1 LOCUS
CHANCE, PF
MATSUNAMI, N
LENSCH, W
SMITH, B
BIRD, TD
[J]. NEUROLOGY, 1992, 42 (10) : 2037 - 2041
[5] GENETIC-LINKAGE OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I (CHARCOT-MARIE-TOOTH DISEASE) TO MARKERS OF CHROMOSOME-1 AND CHROMOSOME-17
DEFESCHE, JC
HOOGENDIJK, JE
DEVISSER, M
DEVISSER, BWO
BOLHUIS, PA
[J]. NEUROLOGY, 1990, 40 (09) : 1450 - 1453
[6] DYCK PJ, 1992, PERIPHERAL NEUROPATH, P1094
[7] A SIMPLE METHOD FOR GENERATING SINGLE-STRANDED-DNA PROBES LABELED TO HIGH ACTIVITIES
ESPELUND, M
STACY, RAP
JAKOBSEN, KS
[J]. NUCLEIC ACIDS RESEARCH, 1990, 18 (20) : 6157 - 6158
[8] X-LINKED NEUROPATHY - GENE LOCALIZATION WITH DNA PROBES
FISCHBECK, KH
ARRUSHDI, N
PERICAKVANCE, M
ROZEAR, M
ROSES, AD
FRYNS, JP
[J]. ANNALS OF NEUROLOGY, 1986, 20 (04) : 527 - 532
[9] X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE - SUGGESTION OF LINKAGE WITH A CLONED DNA-SEQUENCE FROM THE PROXIMAL XQ
GAL, A
MUCKE, J
THEILE, H
WIEACKER, PF
ROPERS, HH
WIENKER, TF
[J]. HUMAN GENETICS, 1985, 70 (01) : 38 - 42
[10] MOUSE P(0) GENE DISRUPTION LEADS TO HYPOMYELINATION, ABNORMAL EXPRESSION OF RECOGNITION MOLECULES, AND DEGENERATION OF MYELIN AND AXONS
GIESE, KP
MARTINI, R
LEMKE, G
SORIANO, P
SCHACHNER, M
[J]. CELL, 1992, 71 (04) : 565 - 576

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