Regulation and expression of the murine Pmp22 gene

Regulation and expression of the murine Pmp22 gene Mammalian Genome 10, 419–422 (1999). Incorporating Mouse Genome © Springer-Verlag New York Inc. 1999 1 1 2 3 Rudi A.C. van de Wetering, Anneke A.W.M. Gabree ¨ls-Festen, Hannie Kremer, Vera M. Kalscheuer, 1 2 Fons J.M. Gabree ¨ls, Edwin C. Mariman Institute of Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands Dept. of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands Max-Planck-Institut fu ¨ r Molekulare Genetik, Berlin (Dahlem), Germany Received: 6 July 1998 / Accepted: 23 November 1998 Mutations in the gene encoding the peripheral myelin protein Comparison of the promoter sequences with the Eukaryotic Pro- PMP22 account for several hereditary neuropathies in human and moter Database (EPD) with the FASTA-program shows homology mouse. Overexpression through a duplication of a 1.5 Mb region of the 1A promoter with several promoters active in skeletal of Chr 17p11.2-12 encompassing the PMP22 gene is by far the muscle, lung, spermatids, and heart (not shown), in accordance most common cause of Charcot-Marie-Tooth disease type 1A with the expression pattern seen for CD25. Overall, the 1A pro- (CMT1A). Underexpression of PMP22 through the reciprocal de- moter contains elements that are commonly present in genes with letion is the major Mammalian Genome Springer Journals

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Copyright © 1999 by Springer-Verlag New York Inc.
Life Sciences; Cell Biology; Animal Genetics and Genomics; Human Genetics
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