Cloning, Genomic Organization, and Chromosomal Localization of Human Citrate Transport Protein to the DiGeorge/Velocardiofacial Syndrome Minimal Critical Region

DiGeorge syndrome (DGS) and velocardiofacial syndrome have been shown to be associated with microdeletions of chromosomal region 22q11. More recently, patients with conotruncal anomaly face syndrome and some nonsyndromic patients with isolated forms of conotruncal cardiac defects have been found to...

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Bibliographic Details
Published in:	Genomics (San Diego, Calif.) Vol. 33; no. 2; pp. 271 - 276
Main Authors:	Goldmuntz, Elizabeth, Wang, Zhili, Roe, Bruce A., Budarf, Marcia L.
Format:	Journal Article
Language:	English
Published:	San Diego, CA Elsevier Inc 15-04-1996 Elsevier
Subjects:	Animals Base Sequence Biological and medical sciences Carrier Proteins - genetics Chromosome Mapping Cloning, Molecular DiGeorge Syndrome - genetics DNA, Complementary Fundamental and applied biological sciences. Psychology Genes. Genome Humans Molecular and cellular biology Molecular genetics Molecular Sequence Data Rodentia Syndrome Genetic mapping Human Complementary DNA Nucleotide sequence Citrate Chromosome G22 Homology Gene organization Carrier protein
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Summary:	DiGeorge syndrome (DGS) and velocardiofacial syndrome have been shown to be associated with microdeletions of chromosomal region 22q11. More recently, patients with conotruncal anomaly face syndrome and some nonsyndromic patients with isolated forms of conotruncal cardiac defects have been found to have 22q11 microdeletions as well. The commonly deleted region, called the DiGeorge chromosomal region (DGCR), spans approximately 1.2 Mb and is estimated to contain at least 30 genes. We report a computational approach for gene identification that makes use of large-scale sequencing of cosmids from a contig spanning the DGCR. Using this methodology, we have mapped the human homolog of a rodent citrate transport protein to the DGCR. We have isolated a partial cDNA containing the complete open reading frame and have determined the genomic structure by comparing the genomic sequence from the cosmid to the sequence of the cDNA clone. Whether the citrate transport protein can be implicated in the biological etiology of DGS or other 22q11 microdeletion syndromes remains to be defined.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0888-7543 1089-8646
DOI:	10.1006/geno.1996.0191