Biomaterial Database

Lipophilin (PLP) gene in X-linked myelin disorders. 1986

S Fahim, and J R Riordan

There are several X-linked diseases in animals and at least one in man in which there is a failure of CNS myelination. We have recently cloned cDNAs for lipophilin (PLP) with which PLP sequences were localized to a region of the long arm of the X chromosome (Xq13-q22 in man) close to the jimpy (jp) locus in that mouse mutant. The present communication pursues the postulate that some of this class of diseases may involve mutations at the PLP locus. Blot hybridization analysis of PLP mRNA levels revealed a five-to tenfold reduction in the brains of hemizygous jp/Y mice. The major PLP mRNA species of those mice was also reduced in size. However, Southern blots of jp DNA digested with many different restriction enzymes failed to detect major deletions or other rearrangements in the PLP gene. A human PLP cDNA was isolated and employed to similarly analyze DNA from four patients diagnosed as having Pelizaeus-Merzbacher disease. In one of these four a significant rearrangement of the PLP gene was found. These findings suggest that there may be alterations in the PLP gene in both jp mouse and Pelizaeus-Merzbacher disease.

UI	MeSH Term	Description	Entries
D008818	Mice, Neurologic Mutants	Mice which carry mutant genes for neurologic defects or abnormalities.	Lurcher Mice,Nervous Mice,Reeler Mice,Staggerer Mice,Weaver Mice,Chakragati Mice,Chakragati Mouse,Lurcher Mouse,Mice, Neurological Mutants,Mouse, Neurologic Mutant,Mouse, Neurological Mutant,Nervous Mouse,Neurologic Mutant Mice,Neurological Mutant Mouse,Reeler Mouse,Staggerer Mouse,Weaver Mouse,ckr Mutant Mice,Mice, Chakragati,Mice, Lurcher,Mice, Nervous,Mice, Neurologic Mutant,Mice, Reeler,Mice, Staggerer,Mice, Weaver,Mice, ckr Mutant,Mouse, Chakragati,Mouse, Lurcher,Mouse, Nervous,Mouse, Reeler,Mouse, Staggerer,Mouse, Weaver,Mutant Mice, Neurologic,Mutant Mice, ckr,Mutant Mouse, Neurologic,Neurologic Mutant Mouse
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009185	Myelin Proteins	MYELIN-specific proteins that play a structural or regulatory role in the genesis and maintenance of the lamellar MYELIN SHEATH structure.	Myelin Protein,Protein, Myelin,Proteins, Myelin
D009693	Nucleic Acid Hybridization	Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)	Genomic Hybridization,Acid Hybridization, Nucleic,Acid Hybridizations, Nucleic,Genomic Hybridizations,Hybridization, Genomic,Hybridization, Nucleic Acid,Hybridizations, Genomic,Hybridizations, Nucleic Acid,Nucleic Acid Hybridizations
D011510	Proteolipids	Protein-lipid combinations abundant in brain tissue, but also present in a wide variety of animal and plant tissues. In contrast to lipoproteins, they are insoluble in water, but soluble in a chloroform-methanol mixture. The protein moiety has a high content of hydrophobic amino acids. The associated lipids consist of a mixture of GLYCEROPHOSPHATES; CEREBROSIDES; and SULFOGLYCOSPHINGOLIPIDS; while lipoproteins contain PHOSPHOLIPIDS; CHOLESTEROL; and TRIGLYCERIDES.
D002417	Cattle	Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.	Beef Cow,Bos grunniens,Bos indicus,Bos indicus Cattle,Bos taurus,Cow,Cow, Domestic,Dairy Cow,Holstein Cow,Indicine Cattle,Taurine Cattle,Taurus Cattle,Yak,Zebu,Beef Cows,Bos indicus Cattles,Cattle, Bos indicus,Cattle, Indicine,Cattle, Taurine,Cattle, Taurus,Cattles, Bos indicus,Cattles, Indicine,Cattles, Taurine,Cattles, Taurus,Cow, Beef,Cow, Dairy,Cow, Holstein,Cows,Dairy Cows,Domestic Cow,Domestic Cows,Indicine Cattles,Taurine Cattles,Taurus Cattles,Yaks,Zebus
D002549	Diffuse Cerebral Sclerosis of Schilder	A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)	Alpers Syndrome,Balo Concentric Sclerosis,Cerebral Sclerosis, Diffuse,Encephalitis Periaxialis,Myelinoclastic Diffuse Sclerosis,Poliodystrophia Cerebri,Schilder Disease,Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis,Alpers Disease,Alpers Progressive Infantile Poliodystrophy,Alpers' Disease,Alpers' Syndrome,Alpers-Huttenlocher Syndrome,Balo's Concentric Sclerosis,Encephalitis Periaxialis Concentrica,Encephalitis Periaxialis Diffusa,Neuronal Degeneration Of Childhood With Liver Disease, Progressive,Progressive Neuronal Degeneration of Childhood with Liver Disease,Progressive Sclerosing Poliodystrophy,Schilder's Disease,Sudanophilic Cerebral Sclerosis,Alper Disease,Alper Syndrome,Alper's Disease,Alper's Syndrome,Alpers Huttenlocher Syndrome,Concentric Sclerosis, Balo,Concentric Sclerosis, Balo's,Diffuse Cerebral Scleroses,Diffuse Cerebral Sclerosis,Diffuse Scleroses, Myelinoclastic,Diffuse Sclerosis, Myelinoclastic,Disease, Alpers',Disease, Schilder,Disease, Schilder's,Myelinoclastic Diffuse Scleroses,Progressive Sclerosing Poliodystrophies,Schilders Disease,Scleroses, Balo's Concentric,Scleroses, Myelinoclastic Diffuse,Sclerosis, Diffuse Cerebral,Sclerosis, Myelinoclastic Diffuse,Syndrome, Alpers,Syndrome, Alpers-Huttenlocher
D003001	Cloning, Molecular	The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.	Molecular Cloning
D003711	Demyelinating Diseases	Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.	Clinically Isolated CNS Demyelinating Syndrome,Clinically Isolated Syndrome, CNS Demyelinating,Demyelinating Disorders,Demyelination,Demyelinating Disease,Demyelinating Disorder,Demyelinations
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA