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Fig. 1 | Biology of Sex Differences

Fig. 1

From: Novel human sex-typing strategies based on the autism candidate gene NLGN4X and its male-specific gametologue NLGN4Y

Fig. 1

NLGN4X/Y gene overview and assay location. a Schematic encompassing the pseudoautosomal region, PAR (green boxed area), as well as the X-specific region on the X chromosome and the male-specific region on the Y chromosome. CD99 is the most proximal, first gene located in the PAR common to both sex chromosomes. The SRY gene (unique to the Y chromosome) is immediately located at the pseudoautosomal boundary within the male-specific region. Gametologous copies of the NLGN4X/Y, AMELX/Y, and ZFX/Y genes are depicted according to their relative positions on the X-specific and male-specific region. b Enlargement of the respective NLGN4X (magenta) and NLGN4Y genes (blue). For immediate comparison, only the protein coding exons are depicted. Both genes share an identical structure except for the size of the untranslated region on exon 1 (grey boxes). All exons are drawn to scale, whereas dashed lines between two neighboring exons reflect varying intron sizes with the respective sizes labeled on top. Exons are numbered according to the general assignment of exons of the neuroligin family [22]; generally, NLGN4 genes formally lack exon 2. Arrows flanking the 5-prime untranslated region on exon 1 represent relative primer localization to identify the indel variation allowing the discrimination of both genes. Grey arrowheads point to the relative position of three potential single nucleotide polymorphisms, SNPs. c Relative position of all three SNPs (A–C) within the coding region. SNP_A and SNP_B are synonymous changes; SNP_C is a non-synonymous change resulting in amino acid differences between NLGN4X and NLGN4Y proteins. d Sequence alignment of NLGN4X/Y PCR amplicons. Priming oligonucleotides are highlighted in grey with the start codon in blue. Identical bases are shown in red, mismatches in black

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