Description

Retrotransposons constitute over 40% of the human genome and consist of several millions of family members. They play important roles in shaping the structure and evolution of the genome and in participating in gene functioning and regulation. Because L1, Alu, and SVA retrotransposons are currently active in the human genome, their recent and ongoing retrotranspositional insertions generate a unique and important class of genetic polymorphisms (for the presence or absence of an insertion) among and within human populations. As such, they are useful genetic markers in population genetics studies due to their identical-by-descent and essentially homoplasy-free nature. Additionally, some polymorphic insertions are known to be responsible for a variety of human genetic diseases. dbRIP, a database of human retrotransposon insertion polymorphisms (RIPs), contains all currently known Alu, L1, and SVA polymorphic insertion loci in the human genome.

Items shown in blue are found on the human reference assembly; those displayed in red are not found in the human reference assembly.

Methods

The dbRIP annotation process is described in Wang, J. et al. (2006) in the References section below.

Credits

Thanks to the Liang Lab at Roswell Park Cancer Institute for providing these data. These data originated from the dbRIP database.

References

Wang J, Song L, Grover D, Azrak S, Batzer MA, Liang P. dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans. Hum Mutat. 2006 Apr;27(4):323-9.