Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs

Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs In this study, samples from multifocal renal tumors from two dogs affected with renal cystadenocarcinoma and nodular dermatofibrosis (RCND) were collected for detection of putative second hits in the FLCN gene. Genomic DNA from the samples was typed at the previously identified disease-associated missense mutation and cDNA representing the entire coding region of the FLCN gene was sequenced for mutation detection. Second hits with predicted functional implications for the wild-type FLCN allele were observed in 12 of 17 (71%) of the kidney tumor samples. The type of mutation of the second hits varied between the tumors. Different alternative splice mutations were detected, as well as loss of heterozygosity at the germline mutation and loss of transcription product of the wild-type FLCN allele. In total, the frequency and wide spectrum of second hits identified in the tumor samples suggests a tumor suppressor function of FLCN in the kidneys of RCND-affected dogs. No mutations were detected in skin nodules sampled from the two dogs. This shows that the skin tumors of RCND-affected dogs may be caused by haploinsufficiency of the FLCN gene product. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

Second hits in the FLCN gene in a hereditary renal cancer syndrome in dogs

Loading next page...
 
/lp/springer_journal/second-hits-in-the-flcn-gene-in-a-hereditary-renal-cancer-syndrome-in-MMJwZjiWm7
Publisher
Springer Journals
Copyright
Copyright © 2008 by Springer Science+Business Media, LLC
Subject
Life Sciences; Zoology ; Anatomy ; Cell Biology
ISSN
0938-8990
eISSN
1432-1777
D.O.I.
10.1007/s00335-007-9088-3
Publisher site
See Article on Publisher Site

Abstract

In this study, samples from multifocal renal tumors from two dogs affected with renal cystadenocarcinoma and nodular dermatofibrosis (RCND) were collected for detection of putative second hits in the FLCN gene. Genomic DNA from the samples was typed at the previously identified disease-associated missense mutation and cDNA representing the entire coding region of the FLCN gene was sequenced for mutation detection. Second hits with predicted functional implications for the wild-type FLCN allele were observed in 12 of 17 (71%) of the kidney tumor samples. The type of mutation of the second hits varied between the tumors. Different alternative splice mutations were detected, as well as loss of heterozygosity at the germline mutation and loss of transcription product of the wild-type FLCN allele. In total, the frequency and wide spectrum of second hits identified in the tumor samples suggests a tumor suppressor function of FLCN in the kidneys of RCND-affected dogs. No mutations were detected in skin nodules sampled from the two dogs. This shows that the skin tumors of RCND-affected dogs may be caused by haploinsufficiency of the FLCN gene product.

Journal

Mammalian GenomeSpringer Journals

Published: Jan 25, 2008

References

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