Unique region of 2739 bp with a long ORF, flanked by large inverted repeat of at least 17 Kb, with nearly identical sequences for the two arms. Single exon, flanked by consensus splice donor and acceptor sites. Predicted protein has 2 amino acid N terminal sequence, the 79 amino acid HMG box, and a 314 amino acid C terminal domain, largely containing repetitive glutamine and histidine rich regions based on degenerate CAG repeat sequence. Single Met initiator codon Amino terminal 56 aa, HMG box of 79 aa, carboxyl terminal 68 aas. Unusual circular RNA, thought to arise from splicing of large transcript originating in inverted repeats, forming stem-loop structure and fooling splicing machinery into thinking donor is 5' to acceptor.
Expression is in germ cells, mostly round spermatids.
Gene with 5 exons encodes a 560 amino acid protein. Male karyotype individuals often have ambiguous or female external genitalia, dysgenetic gonads. All WT1 mutations in DDS are in DNA-binding zinc finger region. Disruption of homologous gene in mice leads to failure of kidney and gonad development and embryonic lethality in both males and females. Does not interfere with germ cell migration into primordial gonad.