There are eight JAMM domain proteins in human, including PRPF8 without protease activity [51, 54].
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.
A recent epigenome-wide association study (EGWAS) in whole-blood DNA of patients from Atherosclerosis Risk in Communities (ARIC) and Framingham Heart (FHS) studies, analyzed using regression models with residualized methylation [beta]-values as the independent variable, showed a statistically significant association between the DNA methylation level in specific CpG sites (e.g., cg23597162 in JAZF1; cg19942083 in PTPN6/PHB2; and cg17944885 in ZNF788/ ZNF20) and the reduction in glomerular filtration rate (eGFR), prevalence and incidence of CKD (cg17944885 and cg19942083 in PTPN6/PHB2), or renal fibrosis (cg12065228 in PQLC2, intergenic cg19942083 near PTPN6/PHB2, cg12116137 in PRPF8
, cg09022230 in TNRC18, and cg27660627 in ANKRD11).
Next-generation sequencing (NGS) was then applied to two affected family members with RP (III:9 and IV:1), who did not have CYP4V2 mutations, then to identify disease-causing variants in 47 RP-related genes including the PRPF31, CRB1, PRPF8
, CA4, TULP1, PRPF3, ABCA4, RPE65, EYS, CERKL, NRL, FAM161A, FSCN2, TOPORS, SNRNP200, SEMA4A, PRCD, NR2E3, MERTK, USH2A, PDE6B, PROM1, KLHL7, PDE6A, RGR, CNGB1, IDH3B, SAG, GUCA1B, CNGA1, BEST1, TTC8, C2orf71, ARL6, IMPG2, PDE6G, ZNF513, DHDDS, PRPF6, CLRN1, MAK, CDHR1, FLVCR1, RLBP1, SPATA7, AIPL1, and LRAT genes.