Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases.
The human genome contains four ETF1 (eukaryotic translation termination factor 1) homologous sequences, localized on chromosomes 5, 6, 7 and X, and corresponding to a functional gene on chromosome 5 and three processed pseudogenes on the other chromosomes. ETF1 genomic or cDNA probes were mapped by fluorescence in situ hybridization to 5q31, 6p21, 7q11 and Xp11.4-->p11.1. A microsatellite marker (D5S500) was identified in intron 7 of the functional ETF1 gene providing its exact position in the 5q31 band. Thus, the ETF1 gene is located in a 5q region which contains unidentified genes responsible for genetic or malignant disorders, and it might be considered as a candidate gene involved in the pathogenesis of these diseases.
Guenet
L
L
Département de Biochimie et Biologie Moléculaire et UPR41 CNRS, Faculté de Médecine, Rennes, France. Lucienne.Guenet@univ-rennes.fr
Henry
C
C
Toutain
B
B
Dubourg
C
C
Le Gall
J Y
JY
David
V
V
Le Treut
A
A
D000208:Acute Disease; D002872:Chromosome Deletion; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics; D007951:Leukemia, Myeloid / Q000235:genetics*; D008214:Lymphocytes; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D010454:Peptide Termination Factors / Q000235:genetics*; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D011544:Pseudogenes / Q000235:genetics*; D016324:Sequence Tagged Sites
C489002:ETF1 protein, human; D010454:Peptide Termination Factors