The genomic organization of the Fanconi anemia group A (FAA) gene

Journal Article · Thu May 01 04:00:00 EDT 1997 · Genomics

DOI:https://doi.org/10.1006/geno.1997.4675· OSTI ID:530724

Ianzano, L; Centra, M; Savino, M ^[1]

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1. IRCCS-Ospedale CSS, San Giovanni Rotondo (Italy); and others

Fanconi anemia (FA) is a genetically heterogeneous disease involving at least five genes on the basis of complementation analysis (FAA to FAE). The FAA gene has been recently isolated by two independent approaches, positional and functional cloning. In the present study we describe the genomic structure of the FAA gene. The gene contains 43 exons spanning approximately 80 kb as determined by the alignment of four cosmids and the fine localization of the first and the last exons in restriction fragments of these clones. Exons range from 34 to 188 bp. All but three of the splice sites were consistent with the ag-gt rule. We also describe three alternative splicing events in cDNA clones that result in the loss of exon 37, a 23-bp deletion at the 5{prime} end of exon 41. Sequence analysis of the 5{prime} region upstream of the putative transcription start site showed no obvious TATA and CAAT boxes, but did show a GC-rich region, typical of housekeeping genes. Knowledge of the structure of the FAA gene will provide an invaluable resource for the discovery of mutations in the gene that accounts for about 60-66% of FA patients. 24 refs., 3 figs., 1 tab.

• OSTI ID: 530724
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 41; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
ANEMIAS
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CHROMOSOME BREAKAGE
CONGENITAL MALFORMATIONS
COSMIDS
DNA SEQUENCING
DNA-CLONING
ETIOLOGY
EXONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
NEOPLASMS
PATIENTS
RECESSIVE MUTATIONS
SPLICING
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION