• Publications
  • Influence
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
We describe genomic structures of 59 X-chromosome segmental duplications that include the proteolipid protein 1 gene (PLP1) in patients with Pelizaeus-Merzbacher disease. We provide the first report
Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin
Direct analysis of normal peripheral nerve demonstrates that PLP is localized to compact myelin, and clinical and pathologic observations of the PLP null phenotype indicate thatPLP/DM20 is necessary for proper myelin function both in the central and peripheral nervous systems.
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
The data suggest that PLP1 deletions are likely caused by nonhomologous end joining, and it is hypothesized that the deletion is infrequent, because only the smaller deletions can avoid causing either infertility or lethality.
DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA.
DNA in solution stored at ambient temperatures up to 37 degrees C for 6 months was digestible by three different restriction endonucleases, whereas storage at 45 degrees C is deleterious after 6-7 weeks, and a sample stored dry for 13 years and then in solution at -20degree C for 7 years appeared to be intact.
Genetics of Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease now comprises a spectrum of disorders with similar but not necessarily identical clinical pictures, some of these disorders may be certain forms of X-linked paraplegia, SPG2.
Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations
The findings suggest that DM20 alone is sufficient to maintain normal nerve function and that there may be domains of PLP/DM20 that have a relatively more active role in the peripheral nervous system compared with that in the central nervous system.
The formation apurinic acid from the desoxyribonucleic acid of calf thymus.
The composition of the deoxyribonucleic acid of salmon sperm.
Information is provided on the composition of the highly polymerized DNA from the spermatozoa of the salmon (Xalmo s&r) and the results obtained with two different hydrolysis methods employed in this laboratory.
A new discontinuous buffer system for the electrophoresis of cationic proteins at near-neutral pH.
A simple, discontinuous buffer system for polyacrylamide gel electrophoresis near neutral pH is described, which offers improved resolution of cationic proteins.
Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
A G-->A transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD), which should block the synthesis of normal PLP but spare DM20, the isoform whose persistence has been associated with mild forms of PLP-associated disease in both humans and mice.