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Title 

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

Authors 

Myung Hee KimHyang Sook HurJong Hoon ParkYung Jin Kim

Publisher 

Humana Press

Issue Date 

2001

Citation 

Applied Biochemistry and Biotechnology - Part B Molecular Biotechnology, vol. 17, no. 3, pp. 213-217

Keywords 

balanced translocationcDNADiGeorge critical region (DGCR)DiGeorge syndromehumanadultchromosome breakagechromosome translocation 22gene isolationtranslocation, genetic

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.

ISSN 

1073-6085

Link 

http://dx.doi.org/10.1385/MB:17:3:213

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2017-04-19


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