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The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome.
Recombinant plasmid clone p23 containing the cDNA proteolipid (PLP) sequence was localized by in situ hybridization on band q22 of the human X chromosome. This localization may have implications for X-linked demyelination diseases such as Pelizaeus-Merzbacher disease in man.
PMID: 3457761 [PubMed - indexed for MEDLINE]
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Cited by 9 PubMed Central articles
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Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, et al.
Am J Hum Genet. 2000 Jul; 67(1):14-22. Epub 2000 May 25.
[Am J Hum Genet. 2000]
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Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.
Am J Hum Genet. 1999 Aug; 65(2):360-9.
[Am J Hum Genet. 1999]
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Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
Woodward K, Kendall E, Vetrie D, Malcolm S.
Am J Hum Genet. 1998 Jul; 63(1):207-17.
[Am J Hum Genet. 1998]
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