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Article

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

Human molecular genetics - 15 Oct 2014

Taube Jennifer R, Sperle Karen, Banser Linda, Seeman Pavel, Cavan Barbra Charina V, Garbern James Y, Hobson Grace M

Abstract excerpt

Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5' splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations that reduce the ratio of PLP1 to DM20, whether mutant or normal protein is formed, result in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We...

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Identifiers

PMID: 24890387
DOI: 10.1093/hmg/ddu271
PMCID: PMC4168831

Genes

PLP1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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