Literature DB >> 7635479

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene.

C Mimault1, F Cailloux, G Giraud, B Dastugue, O Boespflug-Tanguy.   

Abstract

We report a dinucleotide polymorphism in the first intron of the proteolipid protein (PLP) gene with a heterozygosity frequency of 0.69 useful for molecular analysis of families with X-linked neurologic disorders characterized by dysmyelination of the central nervous system, Pelizaeus-Merzbacher Disease (PMD) and X-linked Spastic Paraplegia (SPG2).

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Year:  1995        PMID： 7635479     DOI： 10.1007/bf00207388

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms.

Authors:  R Williamson; A Bowcock; K Kidd; P Pearson; J Schmidtke; H S Chan; M Chipperfield; D N Cooper; J Hewitt; F Lewitter
Journal:  Cytogenet Cell Genet       Date:  1990

2.  X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Authors:  P Saugier-Veber; A Munnich; D Bonneau; J M Rozet; M Le Merrer; R Gil; O Boespflug-Tanguy
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

3.  Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.

Authors:  O Boespflug-Tanguy; C Mimault; J Melki; A Cavagna; G Giraud; D Pham Dinh; B Dastugue; A Dautigny
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025
  3 in total
  5 in total

1.  Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

Authors:  Ken Inoue; Hitoshi Osaka; Virginia C Thurston; Joe T R Clarke; Akira Yoneyama; Lisa Rosenbarker; Thomas D Bird; M E Hodes; Lisa G Shaffer; James R Lupski
Journal:  Am J Hum Genet       Date:  2002-09-20       Impact factor: 11.025

2.  Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Authors:  M E Hodes; K Woodward; N B Spinner; B S Emanuel; A Enrico-Simon; J Kamholz; D Stambolian; E H Zackai; V M Pratt; I T Thomas; K Crandall; S R Dlouhy; S Malcolm
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

3.  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.

Authors:  C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

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

Authors:  Jennifer R Taube; Karen Sperle; Linda Banser; Pavel Seeman; Barbra Charina V Cavan; James Y Garbern; Grace M Hobson
Journal:  Hum Mol Genet       Date:  2014-06-01       Impact factor: 6.150

5.  Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

Authors:  K Woodward; E Kendall; D Vetrie; S Malcolm
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  5 in total

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