Transcriptional mapping in the proximal region of human chromosome 22

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منو

" Transcriptional mapping in the proximal region of human chromosome 22 "
M. A. Riazi H. E. McDermid

Document Type	:	Latin Dissertation
Language of Document	:	English
Record Number	:	1113363
Doc. No	:	TLpq276247466
Main Entry	:	H. E. McDermid
	:	M. A. Riazi
Title & Author	:	Transcriptional mapping in the proximal region of human chromosome 22\ M. A. RiaziH. E. McDermid
College	:	University of Alberta (Canada)
Date	:	1998
student score	:	1998
Degree	:	Ph.D.
Page No	:	153
Abstract	:	Human chromosome 22 cytogenetic band 22q11 is predicted to be a gene rich region as well as being the location of a number of rearrangements leading to syndromes such as cat eye syndrome (CES). CES is a developmental disorder characterized by ocular coloboma, imperforate anus, preauricular skin tags and pits, heart defects, kidney, mild mental retardation, and dysmorphic features such as hypertelorism and downslanting palpebral fissures. The syndrome is usually associated with the presence of a bisatellited supernumerary chromosome derived from an inverted duplication of 22pter-22q11.2. This results in four copies of the region being present in the patients. The minimal duplicated critical region is defined as proximal to locus D22S57, covering approximately 2 Mb. The purpose of this study was to identify genes within the critical region of this syndrome using a variety of approaches, including "exon trapping" and genomic sequence analysis. This study has resulted in the identification of many putative genes. Some of these putative genes have been characterized and could have some significance in the etiology of CES. The gene "IDGFL" could function as a growth factor based on the similarity to a novel insect growth factor. A set of three possible alternatively spliced transcripts of the gene "SAHL1" were also characterized. SAHL1-1 is expressed in the fetal and adult kidney and liver, and therefore could play a part in some features of CES. This study also added to the growing number of unprocessed pseudogenes mapping to the proximal region of chromosome 22. The gene "KCNMBL", identified in this study, which seems to function as a regulatory subunit of Ca-activated potassium channels, maps to 3q26.3-q27 (the region duplicated in the dup 3(q) syndrome) and has a related sequence in the critical region of CES, which is probably a truncated pseudogene. Further characterization of the putative genes identified within the critical region of CES will help in the elucidation of the molecular defects leading to the features of CES.
Subject	:	Biological sciences
	:	Cat eye syndrome
	:	Chromosome 22
	:	Genetics
	:	Molecular biology
	:	Transcriptional mapping