ArticleAmerican journal of human genetics2000
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 50 citations in OpenAlex.
- Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with anMolecular therapy. Nucleic acids · 2024Article
- Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.Brain : a journal of neurology · 2020Article
- Article
- The myelin mutants as models to study myelin repair in the leukodystrophies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2011Review
- Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.American journal of human genetics · 2005Article
- PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.Neurogenetics · 2005Review
- Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.Annals of neurology · 2003Article
- Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.Journal of medical genetics · 2003Article
- Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.American journal of human genetics · 2002Article
- Breaking away from home.American journal of human genetics · 2000Article
- Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.ASN neuroReview
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13 authors at 6 institutions in 2 countries.
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Abstract
The proteolipid protein gene (PLP) is normally present at chromosome Xq22. Mutations and duplications of this gene are associated with Pelizaeus-Merzbacher disease (PMD). Here we describe two new families in which males affected with PMD were found to have a copy of PLP on the short arm of the X chromosome, in addition to a normal copy on Xq22. In the first family, the extra copy was first detected by the presence of heterozygosity of the AhaII dimorphism within the PLP gene. The results of FISH analysis showed an additional copy of PLP in Xp22.1, although no chromosomal rearrangements could be detected by standard karyotype analysis. Another three affected males from the family had similar findings. In a second unrelated family with signs of PMD, cytogenetic analysis showed a pericentric inversion of the X chromosome. In the inv(X) carried by several affected family members, FISH showed PLP signals at Xp11.4 and Xq22. A third family has previously been reported, in which affected members had an extra copy of the PLP gene detected at Xq26 in a chromosome with an otherwise normal banding pattern. The identification of three separate families in which PLP is duplicated at a noncontiguous site suggests that such duplications could be a relatively common but previously undetected cause of genetic disorders.
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