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:11209055

From GONUTS
Jump to: navigation, search
Citation

Kuramoto, T, Kitada, K, Inui, T, Sasaki, Y, Ito, K, Hase, T, Kawagachi, S, Ogawa, Y, Nakao, K, Barsh, GS, Nagao, M, Ushijima, T and Serikawa, T (2001) Attractin/mahogany/zitter plays a critical role in myelination of the central nervous system. Proc. Natl. Acad. Sci. U.S.A. 98:559-64

Abstract

The rat zitter (zi) mutation induces hypomyelination and vacuolation in the central nervous system (CNS), which result in early-onset tremor and progressive flaccid paresis. By positional cloning, we found a marked decrease in Attractin (Atrn) mRNA in the brain of the zi/zi rat and identified zi as an 8-bp deletion at a splice donor site of Atrn. Atrn has been known to play multiple roles in regulating physiological processes that are involved in monocyte-T cell interaction, agouti-related hair pigmentation, and control of energy homeostasis. Rat Atrn gene encoded two isoforms, a secreted and a membrane form, as a result of alternative splicing. The zi mutation at the Atrn locus darkened coat color when introduced into agouti rats, as also described in mahogany (mg) mice, carrying the homozygous mutation at the Atrn locus. Transgenic rescue experiments showed that the membrane-type Atrn complemented both neurological alteration and abnormal pigmentation in zi/zi rats, but that the secreted-type Atrn complemented neither mutant phenotype. Furthermore, we discovered that mg mice exhibited hypomyelination and vacuolation in the CNS associated with body tremor. We conclude from these results that the membrane Atrn has a critical role in normal myelination in the CNS and would provide insights into the physiology of myelination as well as the etiology of myelin diseases.

Links

PubMed PMC14626 Online version:10.1073/pnas.98.2.559

Keywords

Agouti Signaling Protein; Animals; Animals, Genetically Modified; Axons/pathology; Brain Chemistry; Central Nervous System Diseases/embryology; Central Nervous System Diseases/genetics; Central Nervous System Diseases/pathology; Chromosome Mapping; Chromosomes, Human, Pair 20/genetics; DNA, Complementary/genetics; Energy Metabolism/genetics; Exons/genetics; Expressed Sequence Tags; Female; Genes; Genetic Complementation Test; Glycoproteins/genetics; Glycoproteins/physiology; Hair Color/genetics; Humans; Intercellular Signaling Peptides and Proteins; Introns/genetics; Male; Membrane Proteins/genetics; Membrane Proteins/physiology; Mice; Mice, Neurologic Mutants; Molecular Sequence Data; Muscle Hypotonia/genetics; Myelin Sheath/pathology; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/physiology; Neuroglia/pathology; Paraplegia/genetics; Phenotype; Proteins/genetics; Rats; Rats, Mutant Strains/genetics; Species Specificity; Tremor/genetics; Vacuoles/pathology

Significance

Annotations

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

RAT:ATRN

GO:0043473: pigmentation

ECO:0000315:

P

Figure 2

complete
CACAO 3532

RAT:ATRN

involved_in

GO:0043473: pigmentation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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