FGFR1 (Fibroblast Growth Factor Receptor 1)

8p11.23

FGF receptor; membrane associated tyrosine kinase. Signal transduction.

ERVK-6 (endogenous retrovirus group K member 6, envelope)

7p22.1

ERVK/HERV-K are dissemninated throughout the whole genome; one of these, located in 19q13, was found implicated in the t(8;19)

ERV/HERV sequences are thousands of endogenous retroviruses. Most -if not all- are defective, containing deletions or nonsense mutations. The ERVK/HERV-K family is the most recently inserted family, after chimpanzees and men diverged. ERV element consists of two identical, nontranslated long terminal repeats (LTRs) flanking an internal region that encodes proteins required for viral replication and assembly. Defective ERV have lost their internal region and LTRs often remain solos. These retroelements (RE) could be agents of genomic instability. They can cause host DNA rearrangements due to recombination events, by transduction of RE flanking sequences into new genomic loci, by creating pseudogenes, or by causing RNA recombination.

The HERV-K subgroup have been suspected to be involved in cancer (including seminomas), autoimmune diseases, and neuronal diseases such as schizophrenia.