GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:9927484

From GONUTS
Jump to: navigation, search
Citation

Jang, W, Hua, A, Spilson, SV, Miller, W, Roe, BA and Meisler, MH (1999) Comparative sequence of human and mouse BAC clones from the mnd2 region of chromosome 2p13. Genome Res. 9:53-61

Abstract

The mnd2 mutation on mouse chromosome 6 produces a progressive neuromuscular disorder. To determine the gene content of the 400-kb mnd2 nonrecombinant region, we sequenced 108 kb of mouse genomic DNA and 92 kb of human genomic sequence from the corresponding region of chromosome 2p13.3. Three genes with the indicated sizes and intergenic distances were identified: D6Mm5e (>/=81 kb)-787 bp-DOK (2 kb)-845 bp-LOR2 (>/=6 kb). D6Mm5e is expressed in many tissues at very low abundance and the predicted 526-residue protein contains no known functional domains. DOK encodes the p62(dok) rasGAP binding protein involved in signal transduction. LOR2 encodes a novel lysyl oxidase-related protein of 757 amino acid residues. We describe a simple search protocol for identification of conserved internal exons in genomic sequence. Evolutionary conservation proved to be a useful criterion for distinguishing between authentic exons and artifactual products obtained by exon amplification, RT-PCR, and 5' RACE. Conserved noncoding sequence elements longer than 80 bp with >/=75% nucleotide sequence identity comprise approximately 1% of the genomic sequence in this region. Comparative analysis of this human and mouse genomic DNA sequence was an efficient method for gene identification and is independent of developmental stage or quantitative level of gene expression. [The sequence data described in this paper have been submitted to the GenBank data library under the following accession numbers: AC003061, mouse BAC clone 245c12; AC003065, human BAC clone h173(E10); AF053368, mouse Lor2 cDNA; AF084363, 108-kb contig from mouse BAC 245c12; AF084364, mouse D6Mm5e cDNA.]

Links

PubMed PMC310704

Keywords

Amino Acid Sequence; Animals; Base Sequence; Chromosomes, Human, Pair 2/genetics; Cloning, Molecular; Conserved Sequence; Exons; Gene Expression; Genome; Humans; Introns; Mice; Molecular Sequence Data; Neuromuscular Diseases/genetics; Organ Specificity/genetics; Protein Biosynthesis; Protein-Lysine 6-Oxidase/genetics; Proteins/genetics; Pseudogenes; Reading Frames/genetics; Repetitive Sequences, Nucleic Acid; Sequence Alignment

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:M1AP

involved_in

GO:0031497: chromatin assembly

ECO:0000303: author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

HUMAN:M1AP

located_in

GO:0016021: integral component of membrane

ECO:0000303: author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

HUMAN:M1AP

involved_in

GO:0006396: RNA processing

ECO:0000303: author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

MOUSE:M1AP

involved_in

GO:0031497: chromatin assembly

ECO:0000303: author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

MOUSE:M1AP

located_in

GO:0016021: integral component of membrane

ECO:0000303: author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

MOUSE:M1AP

involved_in

GO:0006396: RNA processing

ECO:0000303: author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.