Fig.1.

Genomic region of human FAN1 at 15q13.3 (GRCh37/hg19). (a) Schematic organization of 15q13.3 microduplication/microdeletion region contains multiple genes including FAN1. (b) FAN1 and MTR10 are partially overlapped and include various coding and non-coding genetic variants identified in HD, various spinocerebellar ataxias (SCAs), autism (ASD), and schizophrenia (SZC). The murine homolog of p.S795P (mS798P, in between the TPR and the nuclease domain) was identified in a murine Rett syndrome modifier screen [86]. CAG/polyQ disease-hastening and disease-delaying variants are shown in red and green fonts, respectively. (c) FAN1 has various transcript variants, a limited set of full length and truncated FAN1 transcript variants are shown (NM: Transcript variant, NP: Isoforms of transcript variant). Information for making this figure is from the NCBI genome browser, UCSC genome browser, and Ensembl browser. For details of the 15q13.3 chromosomal rearrangements, see Supplementary Figure 1. (d) Table with HD modifier haplotypes in FAN1.