THE HUMAN MITOCHONDRIAL CITRATE TRANSPORTER GENE (SLC20A3) MAPS TO CHROMOSOME BAND 22Q11 WITHIN A REGION IMPLICATED IN DIGEORGE-SYNDROME, VELO-CARDIO-FACIAL SYNDROME AND SCHIZOPHRENIA

Authors
STOFFEL M KARAYIORGOU M ESPINOSA R LEBEAU MM
Citation
M. Stoffel et al., THE HUMAN MITOCHONDRIAL CITRATE TRANSPORTER GENE (SLC20A3) MAPS TO CHROMOSOME BAND 22Q11 WITHIN A REGION IMPLICATED IN DIGEORGE-SYNDROME, VELO-CARDIO-FACIAL SYNDROME AND SCHIZOPHRENIA, Human genetics, 98(1), 1996, pp. 113-115
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
98
Issue
1
Year of publication
1996
Pages
113 - 115
Database
ISI
SICI code
0340-6717(1996)98:1<113:THMCTG>2.0.ZU;2-0
Abstract
The gene encoding the human mitochondrial citrate transporter designat ed SLC20A3 was mapped to chromosome 22 by analyzing its segregation in a panel of human-hamster somatic cell hybrids. This assignment was co nfirmed by fluorescence in situ hybridization to metaphase chromosomes , and the gene was further localized to band 22q11.21. The gene is loc ated in a critical region associated with allelic losses in a variety of clinical syndromes, including DiGeorge syndrome, velo-cardio-facial syndrome and a subtype of schizophrenia.