Monoallelic expression of the protease inhibitor gene in humans, sheep, and cattle

Monoallelic expression of the protease inhibitor gene in humans, sheep, and cattle Alpha 1-antitrypsin (AAT) deficiency is a genetic disorder that is associated with emphysema and liver disease because of mutations in the protease inhibitor (PI) gene. Although AAT deficiency is known to be an autosomal recessive disorder, some heterozygous individuals have been found to be affected. In this study, a polymorphism-based approach was used to study the expression status of the PI gene in humans, sheep, and cattle. RT-PCR products obtained from a total of 141 tissues were analyzed by direct sequencing and RFLP. Genomic DNA and cDNA from saliva from human individuals, including a family of four and two families of two, were sequenced. Thirteen individuals showed biallelic expression, and three individuals showed monoallelic expression. This differential expression of the PI gene might elucidate the puzzling heterozygote controversy in which heterozygotes have been found to be affected with AAT deficiency. Sheep and cattle tissues showed a complex pattern of expression. In most sheep tissues (17/25), PI transcripts were expressed from both parental alleles; in three tissues, PI transcripts were expressed preferentially from one allele and partially expressed from the other allele; in eight tissues, PI transcripts were monoallelically expressed. Comparisons of the expression patterns of cattle fetuses and their dams show that the PI gene is biallelically expressed in fetuses and predominantly monoallelically expressed in the dams. The expression analysis of the bovine PI transcripts in the different tissues demonstrated sporadic pattern of expression with preferential monoalleleic expression for some tissues and preferential biallelic expression for other tissues. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

Monoallelic expression of the protease inhibitor gene in humans, sheep, and cattle

Loading next page...
 
/lp/springer_journal/monoallelic-expression-of-the-protease-inhibitor-gene-in-humans-sheep-tC3yx5bC5V
Publisher
Springer-Verlag
Copyright
Copyright © 2005 by Springer Science+Business Media, Inc.
Subject
Life Sciences; Anatomy; Cell Biology; Zoology
ISSN
0938-8990
eISSN
1432-1777
D.O.I.
10.1007/s00335-004-2431-z
Publisher site
See Article on Publisher Site

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 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

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

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches

$49/month

Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

$588

$360/year

billed annually
Start Free Trial

14-day Free Trial