Molecular evidences of LINE-1 insertion. (Upper; 1) Analysis of the LINE-1 insertion site. (Left) Lane A, Agarose gel, normal 46,XY control; lane B, mother of affected individual; lane C, affected individual; and lane D, DNA molecular weight marker. (Right) Sanger sequencing of the 5′UTR AR gene (5′-3′). The insertion starts as a poly(T) at c.-268 position (*index case; **normal male as control); (Middle; 2) Sequencing of the 5′UTR region of AR in the propositus. The 18-bp TSD is marked in gray. The entire inserted LINE-1 sequence is marked in blue. The 11-bp poly(T) is shown in red. This insertion is composed of 804 nt plus poly(A) sequence. This sequence is 99.7% identical to the 3′ end of the putative parental LINE-1HS sequence (AC002980). (3. Schematic representation of the full-length human LINE-1HS. (Upper; 3) The 5′-truncated form of the LINE-1 (nucleotides 5218 to 6021) with 3′-poly(A) tracts. (Middle; 3) Insertion in the 5′UTR region in the AR gene flanked by 18-bp TSD (5′-AAGATCTGGGCATCTTTT-3′) (lower; 3). (4) AR gene expression comparison between affected individual and control.