ETV6 (ets variant 6)

The ETV6 gene located at band 12p13 encodes a protein containing two major domains, the HLH (helix-loop-helix) domain, encoded by exons 3 and 4, and the ETS domain, encoded by exons 6 through 8, with in between the internal domain encoded by exon 5. ETV6 is a strong transcriptional repressor, acting through its HLH and internal domains. Five potential mechanisms of ETV6-mediated carcinogenesis have been identified: constitutive activation of the kinase activity of the partner protein, modification of the original functions of a transcription factor, loss of function of the fusion gene, affecting ETV6 and the partner gene, activation of a proto-oncogene in the vicinity of a chromosomal translocation and dominant negative effect of the fusion protein over transcriptional repression mediated by wild-type ETV6. Thirty-three ETV6 partner genes have been identified

t(9;12)(q34;p13) ETV6/ABL1

Review on t(9;12)(q34;p13) ETV6/ABL1, with data on clinics, and the genes implicated

t(3;12)(q26;p13) ETV6/MECOM - t(3;12)(q26;p13) ETV6/EVI1

Short communication on t(3;12)(q26;p13) ETV6/MECOM, with data on clinics, and the genes implicated

t(6;20)(q13;q12) LMBRD1/CHD6

Short communication on t t(6;20)(q13;q12) LMBRD1/CHD6, with data on clinics, and the genes implicated

inv(3)(q21q26)x2

Review on inv(3)(q21q26)x2, with data on clinics, and the genes involved

t(20;21)(q13.2;q22.12) ZFP64/RUNX1

Review on t(20;21)(q13.2;q22.12) ZFP64/RUNX1, with data on clinics, and the genes involved

t(10;17)(p15;q21) ZMYND11/MBTD1

Short communication on on t(10;17)(p15;q21) ZMYND11/MBTD1, with data on clinics, and the genes implicated

t(5;11)(q35;q12) NSD1/FEN1

Review on t(5;11)(q35;q12) NSD1/FEN1, with data on clinics, and the genes implicated

t(5;12)(p13;p13) NIPBL/ETV6

Review on t(5;12)(p13;p13) NIPBL/ETV6, with data on clinics, and the genes involved

Associations with 5 CFTR Mutations in »Grande Brière«, an Isolate Located in Southern Brittany

The variability at three microsatellites in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) locus has been studied for frequent mutations encountered in an isolated population of »Grande Brière«, a small region located in Southern Brittany. Fluorescent multiplex PCR of these microsatellites were assayed in 16 Cystic Fibrosis (CF) families carrying 5 different mutations. The four most frequent haplotypes on df508 chromosomes were the same as those found in Northern France and Europe but the distribution of these haplotypes provides new enlightenment on the population origin of this insular community