Divergently transcribed

Heart development is a relatively fragile process in which many transcription factor genes show dosesensitive characteristics such as haploinsufficiency and lower penetrance. Despite efforts to unravel the genetic mechanism for overcoming the fragility under normal conditions, our understanding still remains in its infancy.

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Alu transposons are found only in primate genomes and have accumulated in large numbers since primates diverged from other mammals. Human chromosomes contain more than one million Alu copies, equaling about 10% of the genome by mass. This accumulation was made possible by a transposition mechanism that reverse transcribes Alu mRNAs into mobile DNA copies. Another transposon, the long interspersed element (LINE) L1, supplies a specialized reverse transcriptase enzyme needed for Alu to jump. Hence, Alu and L1 exist in a sort of molecular symbiosis.

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