Insertional mutation of the Attractin gene in the black tremor hamster

Insertional mutation of the Attractin gene in the black tremor hamster The hamster black tremor (bt) mutation induces a black coat color and a defective myelination in the central nervous system (CNS) that manifests as a tremor. On the other hand, loss-of-function mutations of the Attractin (Atrn) gene, such as Atrn mg , Atrn mg-L , and Atrn mg-3J in mice, and Atrn zi in rats, induce both darkening of coat color and hypomyelination and vacuolation in the CNS. The close resemblance of the mutant phenotypes led us to postulate that the bt/bt hamster also might harbor a mutation in Atrn. Here, we cloned the hamster Atrn cDNA and identified bt as a loss-of-function mutation of Atrn. While the human and rat Atrn genes encode both membrane- and secreted-type proteins, the hamster Atrn gene encoded only membrane-type protein with 1,427 amino acids, as in the case of the mouse. Hamster Attractin protein had 93.6%, 96.8%, and 96.8% identities with human, rat, and mouse membrane-type Attractin. In the brain of the bt/bt hamster, aberrant transcripts with more than three size species were observed, and the most predominant transcript encoded the truncated Attractin without transmembrane domain. In the Atrn gene of bt/bt hamster, an ∼10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, was inserted into exon 24. In addition, the insertion was cosegregated with neurodegeneration in the CNS of 50 intercross progeny. These results indicated that the hamster bt mutation was the ∼10-kb retrotransposon-like insertion into the Atrn gene, which resulted in aberrant transcripts. The bt/bt hamster will provide a useful tool for further understanding of the pleiotropic functions of Attractin. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

Insertional mutation of the Attractin gene in the black tremor hamster

Loading next page...
 
/lp/springer_journal/insertional-mutation-of-the-attractin-gene-in-the-black-tremor-hamster-ZuiIla6JwC
Publisher
Springer-Verlag
Copyright
Copyright © 2002 by Springer-Verlag New York Inc.
Subject
Life Sciences; Cell Biology; Anatomy; Zoology
ISSN
0938-8990
eISSN
1432-1777
D.O.I.
10.1007/s00335-001-2116-9
Publisher site
See Article on Publisher Site

Abstract

The hamster black tremor (bt) mutation induces a black coat color and a defective myelination in the central nervous system (CNS) that manifests as a tremor. On the other hand, loss-of-function mutations of the Attractin (Atrn) gene, such as Atrn mg , Atrn mg-L , and Atrn mg-3J in mice, and Atrn zi in rats, induce both darkening of coat color and hypomyelination and vacuolation in the CNS. The close resemblance of the mutant phenotypes led us to postulate that the bt/bt hamster also might harbor a mutation in Atrn. Here, we cloned the hamster Atrn cDNA and identified bt as a loss-of-function mutation of Atrn. While the human and rat Atrn genes encode both membrane- and secreted-type proteins, the hamster Atrn gene encoded only membrane-type protein with 1,427 amino acids, as in the case of the mouse. Hamster Attractin protein had 93.6%, 96.8%, and 96.8% identities with human, rat, and mouse membrane-type Attractin. In the brain of the bt/bt hamster, aberrant transcripts with more than three size species were observed, and the most predominant transcript encoded the truncated Attractin without transmembrane domain. In the Atrn gene of bt/bt hamster, an ∼10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, was inserted into exon 24. In addition, the insertion was cosegregated with neurodegeneration in the CNS of 50 intercross progeny. These results indicated that the hamster bt mutation was the ∼10-kb retrotransposon-like insertion into the Atrn gene, which resulted in aberrant transcripts. The bt/bt hamster will provide a useful tool for further understanding of the pleiotropic functions of Attractin.

Journal

Mammalian GenomeSpringer Journals

Published: Feb 19, 2014

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off