Family Members USPL1, CYLD, USP1, USP2, USP3, USP4, USP5, USP6, USP7, USP YSP8, USP9x, USP10, USP11, USP12, USP13, USP14, USP15, USP16
, USP17L2, USP18, USP19, USP20, USP21, USP22, USP23, USP24, USP25, USP26, USP27, USP28, USP29, USP30, USP31, USP32, USP33, USP34, USP35, USP36, USP37, USP38, USP39, USP40, USP41, USP42, USP43, USP44, USP45, USP46, USP47, USP48, USP49, USP50, USP51, USP52, USP53, USP54 OTUB1, OTUB2, OTUD1, OTUD3, OTUD4, OTUD5, OTUD6A, OTU OTUD6B, OTU1, HIN1L, A20, Cezanne, Cezanne2, TRABID, VCPIP1 UCH UCH-L1, UCH-L3, UCH37/UCH-L5, BAP1 Josephin ATXN3, ATXN3L, JOSD1, JOSD2 JAMM/MPN+ BRCC36, CSNS, POH1, AMSH, AMSH-LP, MPND, MYSM1, PRPF8 Table 2: Deubiquitinases and bone remodeling.
Although the gene, called Usp16, is unlikely to be the only contributor to the disease, the finding raises the possibility of an eventual therapy based on reducing its expression.
"We believe Usp16 overexpression is a major contributor to the neurological deficits seen in Down syndrome."
The fact that people with Down syndrome have three copies of chromosome 21 and the Usp16 gene accelerates the rate at which stem cells are used during early development, which likely exhausts stem cell pools and impairs tissue regeneration in adults with Down syndrome.
They also investigated the effect of Usp16 overexpression in human cells.
Conversely, reducing Usp16 expression in skin and nerve-progenitor cells from people with Down syndrome allowed the cells, which usually proliferate slowly, to assume normal growth patterns.
Reducing Usp16 expression gives an unambiguous rescue at the stem cell level.