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Isolation of novel cDNA encompassing the ADU balanced translocation break point in the DiGeorge critical region

Authors
 Myoung Hee Kim  ;  Hyangsuk Hur  ;  Jonghoon Park  ;  Yung Jin Kim 
Citation
 MOLECULAR BIOTECHNOLOGY, Vol.17(3) : 213-217, 2001 
Journal Title
 MOLECULAR BIOTECHNOLOGY 
ISSN
 1073-6085 
Issue Date
2001
MeSH
Amino Acid Sequence ; Animals ; Base Sequence ; Blotting, Northern ; Brain/embryology ; Brain/metabolism ; Cell Nucleus/metabolism ; Chromosomes, Human, Pair 2 ; Chromosomes, Human, Pair 22 ; DNA, Complementary/chemistry* ; DNA, Complementary/genetics* ; DNA, Complementary/metabolism ; DiGeorge Syndrome/genetics* ; Gene Library ; Humans ; Hydrogen-Ion Concentration ; Kidney/embryology ; Kidney/metabolism ; Liver/embryology ; Liver/metabolism ; Molecular Sequence Data ; Muscle, Skeletal/metabolism ; Myocardium/metabolism ; Open Reading Frames ; Protein Biosynthesis* ; Proteins/genetics* ; RNA, Messenger/metabolism ; Tissue Distribution ; Translocation, Genetic*
Keywords
DiGeorge syndrome ; balanced translocation ; DiGeorge critical region (DGCR) ; cDNA ; human
Abstract
DiGeorge syndrome (DGS) is a developmental field defect of the third and fourth pharyngeal pouches that are associated with congenital heart defects, hypoparathyroidism, cell-mediated immunodeficiency, velopharyngeal insufficiency, and craniofaial anomalities. Approximately 90% of patients exhibit monosomy in the 22q11 region. In order to isolate the critical gene responsible for DGS, the cDNA libraries were screened with a probe containing the ADU balanced translocation break point, that is a locus reported in one patient (ADU) caused by a balanced translocation between chromosomes 22 and 2. Out of 106 clones, three independent overlapping clones were isolated, which were assumed to have originated from a single transcript, DGCR7. This transcript contained a 175-aa long open reading frame (ORF), encoding an acidic (pI=5.81) and a proline-rich peptide, which are often found in the activation domain of several transcription factors. Also, it was predicted to be a nuclear protein. Northern hybridization detected an approx 1.9 kb transcript in all fetal and adult tissues tested, with strong expression in the fetal liver and kidney. In the case of adult tissues, strong expression was also detected in areas such as the heart, skeletal muscle, liver, and kidney.
Full Text
http://link.springer.com/article/10.1385%2FMB%3A17%3A3%3A213
DOI
10.1385/MB:17:3:213
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
Kim, Myoung Hee(김명희) ORCID logo https://orcid.org/0000-0001-5652-1452
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142430
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