Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region

Journal Article · Mon Apr 15 00:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0191· OSTI ID:465956

Goldmuntz, E; Budarf, M L ^[1]; Wang, Zhili; Roe, B A ^[2]

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1. Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)
2. Univ. of Oklahoma, Norman, OK (United States)

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. 36 refs., 3 figs., 1 tab.

• OSTI ID: 465956
• Journal Information: Genomics, Vol. 33, Issue 2; Other Information: PBD: 15 Apr 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PROTEINS
DNA SEQUENCING
DNA-CLONING
GENETIC MAPPING
STRUCTURE-ACTIVITY RELATIONSHIPS
GENE REGULATION
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
HEREDITARY DISEASES
ETIOLOGY
MAN
CONGENITAL MALFORMATIONS
CARDIOVASCULAR DISEASES
COSMIDS
CONTIGS
DNA HYBRIDIZATION
CITRATES
BIOLOGICAL MARKERS