PMID- 10556422
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20190905
IS  - 0938-8990 (Print)
IS  - 0938-8990 (Linking)
VI  - 10
IP  - 11
DP  - 1999 Nov
TI  - Characterization and chromosomal mapping of a mouse ortholog of the
      late-infantile ceroid-lipofuscinosis gene CLN2.
PG  - 1050-3
AB  - Late-infantile ceroid-lipofuscinosis (CLN2) is an autosomal recessively
      inherited, neurodegenerative disease in humans. The CLN2 locus has been mapped to
      Chromosome (Chr) 11p15, and its sequence and genomic organization have recently
      been reported. In the present study, the cDNA sequence, exon/intron organization,
      and chromosomal localization of a mouse ortholog of the CLN2 gene are described. 
      The mouse cDNA contains an open reading frame that predicts a protein product of 
      562 amino acids. The mouse and human coding regions are 86% and 88% identical at 
      the nucleic acid and amino acid levels, respectively. One less codon appears in
      the mouse cDNA when compared with the human ortholog. The mouse gene (Cln2) spans
      more than 6 kb and consists of 13 exons separated by introns ranging in size from
      111 to 1259 bp. Length polymorphism in an (AC)(n) microsatellite in intron 3 of
      the mouse Cln2 gene was used to perform segregation analysis with The Jackson
      Laboratory DNA Panel Mapping Resource. On the basis of this analysis, the Cln2
      gene was localized to a region of mouse Chr 7 that corresponds to human Chr
      11p15. Characterization of the mouse Cln2 gene will facilitate generation of a
      mouse model for late-infantile ceroid-lipofuscinosis by gene targeting and
      identification of functionally important regions of the Cln2 protein.
FAU - Katz, M L
AU  - Katz ML
AD  - Mason Eye Institute, University of Missouri School of Medicine, One Hospital
      Drive, Columbia, Missouri 65212, USA.
FAU - Liu, P C
AU  - Liu PC
FAU - Grob-Nunn, S E
AU  - Grob-Nunn SE
FAU - Shibuya, H
AU  - Shibuya H
FAU - Johnson, G S
AU  - Johnson GS
LA  - eng
SI  - GENBANK/AF124599
GR  - NS30155/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Mamm Genome
JT  - Mammalian genome : official journal of the International Mammalian Genome Society
JID - 9100916
RN  - 0 (DNA, Complementary)
RN  - EC 3.4.- (Endopeptidases)
RN  - EC 3.4.- (Peptide Hydrolases)
RN  - EC 3.4.- (Serine Proteases)
RN  - EC 3.4.11.- (Aminopeptidases)
RN  - EC 3.4.14.- (Dipeptidyl-Peptidases and Tripeptidyl-Peptidases)
RN  - EC 3.4.14.9 (tripeptidyl-peptidase 1)
SB  - IM
MH  - Amino Acid Sequence
MH  - Aminopeptidases
MH  - Animals
MH  - Base Sequence
MH  - *Chromosome Mapping
MH  - DNA, Complementary/analysis
MH  - Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
MH  - Endopeptidases
MH  - Exons
MH  - Female
MH  - Haplotypes
MH  - Humans
MH  - Introns
MH  - Mice
MH  - Mice, Inbred C57BL
MH  - Mice, Inbred Strains
MH  - Molecular Sequence Data
MH  - Neuronal Ceroid-Lipofuscinoses/*genetics
MH  - Peptide Hydrolases/chemistry/*genetics
MH  - Sequence Homology, Amino Acid
MH  - Sequence Homology, Nucleic Acid
MH  - Serine Proteases
EDAT- 1999/11/11 00:00
MHDA- 1999/11/11 00:01
CRDT- 1999/11/11 00:00
PHST- 1999/11/11 00:00 [pubmed]
PHST- 1999/11/11 00:01 [medline]
PHST- 1999/11/11 00:00 [entrez]
AID - MG99-693 [pii]
AID - 10.1007/s003359901160 [doi]
PST - ppublish
SO  - Mamm Genome. 1999 Nov;10(11):1050-3. doi: 10.1007/s003359901160.