Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region

Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome... We have identified and cloned a novel gene ( DGCR8 ) from the human chromosome 22q11.2. This gene is located in the DiGeorge syndrome chromosomal region (DGCR). It consists of 14 exons spanning over 35 kb and produces transcripts with ORF of 2322 bp, encoding a protein of 773 amino acids. We also isolated a mouse ortholog Dgcr8 and found it has 95.3% identity with human DGCR8 at the amino acid sequence level. Northern blot analysis of human and mouse tissues from adult and fetus showed rather ubiquitous expression. However, the in situ hybridization of mouse embryos revealed that mouse Dgcr8 transcripts are localized in neuroepithelium of primary brain, limb bud, vessels, thymus, and around the palate during the developmental stages of embryos. The expression profile of Dgcr8 in developing mouse embryos is consistent with the clinical phenotypes including congenital heart defects and palate clefts associated with DiGeorge syndrome (DGS)/conotruncal anomaly face syndrome (CAFS)/velocardiofacial syndrome (VCFS), which are caused by monoallelic microdeletion of chromosome 22q11.2. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Biochemical and Biophysical Research Communications Elsevier

Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region

Loading next page...
 
/lp/elsevier/molecular-cloning-and-expression-analysis-of-a-novel-gene-dgcr8-Y1DHQmDhWw
Publisher
Elsevier
Copyright
Copyright © 2003 Elsevier Science (USA)
ISSN
0006-291x
D.O.I.
10.1016/S0006-291X(03)00554-0
Publisher site
See Article on Publisher Site

Abstract

We have identified and cloned a novel gene ( DGCR8 ) from the human chromosome 22q11.2. This gene is located in the DiGeorge syndrome chromosomal region (DGCR). It consists of 14 exons spanning over 35 kb and produces transcripts with ORF of 2322 bp, encoding a protein of 773 amino acids. We also isolated a mouse ortholog Dgcr8 and found it has 95.3% identity with human DGCR8 at the amino acid sequence level. Northern blot analysis of human and mouse tissues from adult and fetus showed rather ubiquitous expression. However, the in situ hybridization of mouse embryos revealed that mouse Dgcr8 transcripts are localized in neuroepithelium of primary brain, limb bud, vessels, thymus, and around the palate during the developmental stages of embryos. The expression profile of Dgcr8 in developing mouse embryos is consistent with the clinical phenotypes including congenital heart defects and palate clefts associated with DiGeorge syndrome (DGS)/conotruncal anomaly face syndrome (CAFS)/velocardiofacial syndrome (VCFS), which are caused by monoallelic microdeletion of chromosome 22q11.2.

Journal

Biochemical and Biophysical Research CommunicationsElsevier

Published: Apr 25, 2003

References

  • Velo-cardio-facial syndrome: a review of 120 patients
    Goldberg, R.; Motzkin, B.; Marion, R.; Scambler, P.J.; Shprintzen, R.J.
  • Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
    Matsuoka, R.; Kimura, M.; Scambler, P.J.; Morrow, B.E.; Imamura, S.; Minoshima, S.; Shimizu, N.; Yamagishi, H.; Joh-O, K.; Watanabe, S.; Oyama, K.; Saji, T.; Ando, M.; Takao, A.; Momma, K.
  • Late-onset psychosis in the velo-cardio-facial syndrome
    Shprintzen, R.J.; Goldberg, R.; Golding-Kushner, K.J.; Marion, R.W.
  • A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart
    Lindsay, E.A.; Rizzu, P.; Antonacci, R.; Jurecic, V.; Delmas-Mata, J.; Lee, C.C.; Kim, U.J.; Scambler, P.J.; Baldini, A.
  • The DNA sequence of human chromosome 22
    Dunham, I.; Shimizu, N.; Roe, B.A.; Chissoe, S.
  • Mouse myocilin (Myoc) gene expression in ocular tissues
    Takahashi, H.; Noda, S.; Imamura, Y.; Nagasawa, A.; Kubota, R.; Mashima, Y.; Kudoh, J.; Oguchi, Y.; Shimizu, N.

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 folders to
organize your research

Export folders, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off