Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
free free
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse Gao H; Boustany RM; Espinola JA; Cotman SL; Srinidhi L; Antonellis KA; Gillis T; Qin X; Liu S; Donahue LR; Bronson RT; Faust JR; Stout D; Haines JL; Lerner TJ; MacDonald MEAm J Hum Genet 2002[Feb]; 70 (2): 324-35The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. We have used multiallele markers spanning this approximately 4-Mb candidate interval to reveal a core haplotype, shared in Costa Rican families with vLINCL but not in a Venezuelan kindred, that highlighted a region likely to contain the CLN6 defect. Systematic comparison of genes from the minimal region uncovered a novel candidate, FLJ20561, that exhibited DNA sequence changes specific to the different disease chromosomes: a G-->T transversion in exon 3, introducing a stop codon on the Costa Rican haplotype, and a codon deletion in exon 5, eliminating a conserved tyrosine residue on the Venezuelan chromosome. Furthermore, sequencing of the murine homologue in the nclf mouse, which manifests recessive NCL-like disease, disclosed a third lesion-an extra base pair in exon 4, producing a frameshift truncation on the nclf chromosome. Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man.|Amino Acid Sequence[MESH]|Animals[MESH]|Base Sequence[MESH]|Chromosome Mapping[MESH]|Chromosomes, Human, Pair 15/genetics[MESH]|Costa Rica[MESH]|DNA Mutational Analysis[MESH]|Exons/genetics[MESH]|Female[MESH]|Gene Deletion[MESH]|Gene Frequency/genetics[MESH]|Haplotypes/genetics[MESH]|Humans[MESH]|Male[MESH]|Membrane Proteins/chemistry/deficiency/*genetics[MESH]|Mice[MESH]|Molecular Sequence Data[MESH]|Mutation/*genetics[MESH]|Neuronal Ceroid-Lipofuscinoses/*genetics[MESH]|Pedigree[MESH]|Polymorphism, Genetic/genetics[MESH]|RNA, Messenger/analysis/genetics[MESH]|Sequence Alignment[MESH]|Venezuela[MESH] |