THE PERIPHERAL MYELIN GENE PMP-22/GAS-3 IS DUPLICATED IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A

被引：333
作者：
VALENTIJN, LJ
BOLHUIS, PA
ZORN, I
HOOGENDIJK, JE
VANDENBOSCH, N
HENSELS, GW
STANTON, VP
HOUSMAN, DE
FISCHBECK, KH
ROSS, DA
NICHOLSON, GA
MEERSHOEK, EJ
DAUWERSE, HG
VANOMMEN, GJB
BAAS, F
机构：
[1] MIT,CTR CANC RES,CAMBRIDGE,MA 02139
[2] UNIV PENN,SCH MED,DEPT NEUROL,PHILADELPHIA,PA 19104
[3] UNIV SYDNEY,CONCORD HOSP,DEPT MED,SYDNEY,NSW 2006,AUSTRALIA
[4] LEIDEN UNIV,SYLVIUS LABS,DEPT HUMAN GENET,2333 AL LEIDEN,NETHERLANDS
来源：
NATURE GENETICS | 1992年 / 1卷 / 03期
关键词：
D O I：
10.1038/ng0692-166
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is altered in CMT1A. Here we show that the human homologue of the murine pmp-22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP-22. Expression of PMP-22 in CMT1A fibroblasts is similar to expression in control fibroblasts. Increased gene dosage or altered PMP-22 expression in the peripheral nervous system are therefore possible mechanisms by which PMP-22 is involved in CMT1A.
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收藏
页码：166 / 170
页数：5
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