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PMID:10662549

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Citation

Cox, PR and Zoghbi, HY (2000) Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics 63:97-107

Abstract

Tropomodulin (TMOD) is the actin-capping protein for the slow-growing end of filamentous actin, and a neuronal-specific isoform, neuronal tropomodulin (NTMOD), is the major binding protein to brain tropomyosin in rat. The Drosophila TMOD homolog, Sanpodo, alters sibling cell fate determination, so we used a cross-species approach to identify additional TMOD family members that may play a critical role in this process. We characterized the human and mouse orthologs to rat NTMOD (TMOD2 and Tmod2, respectively) as well as two novel tropomodulin family members (TMOD3, Tmod3 and TMOD4, Tmod4). Their expression patterns vary extensively, from ubiquitous (TMOD3 and Tmod3) to muscle (TMOD4) or neuronal tissues only (TMOD2 and Tmod2). TMOD2 and TMOD3 map next to one another on chromosome 15q21.1-q21.2, and their mouse orthologs map to a homologous region on mouse chromosome 9; TMOD4 maps to the telomeric end of 1q12 and Tmod4 to a homologous region of mouse chromosome 3. Their location and expression patterns make TMOD2 and TMOD3 candidate genes for amyotrophic lateral sclerosis 5 (ALS5) and dyslexia-1 (DYX1) and TMOD4 a candidate gene for limb girdle muscular dystrophy 1B (LGMD1B). Our mapping efforts revealed new regions of paralogy among chromosomes 1q, 9q, 15q, and 19p.

Links

PubMed Online version:10.1006/geno.1999.6061

Keywords

Amino Acid Sequence; Animals; Blotting, Northern; Carrier Proteins/genetics; Carrier Proteins/metabolism; Chromosome Mapping; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 19; Chromosomes, Human, Pair 9; Embryo, Mammalian/metabolism; Female; Humans; Male; Mice; Microfilament Proteins/genetics; Microfilament Proteins/metabolism; Molecular Sequence Data; Organ Specificity; RNA, Messenger/analysis; Rats; Reverse Transcriptase Polymerase Chain Reaction; Sequence Alignment; Tropomodulin

Significance

Annotations

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

HUMAN:TMOD4

enables

GO:0005523: tropomyosin binding

ECO:0000304: author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

HUMAN:TMOD4

involved_in

GO:0006936: muscle contraction

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TMOD3

enables

GO:0005523: tropomyosin binding

ECO:0000304: author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

HUMAN:TMOD2

involved_in

GO:0007399: nervous system development

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TMOD2

enables

GO:0005523: tropomyosin binding

ECO:0000304: author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete


See also

References

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