Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility  Vincent W. Aoki, Ph.D., Greg L. Christensen, B.S., John F. Atkins, Ph.D., Douglas T. Carrell, Ph.D., H.C.L.D.  Fertility and Sterility  Volume 86, Issue 5, Pages 1416-1422 (November 2006) DOI: 10.1016/j.fertnstert.2006.04.033 Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Genomic DNA sequences and identified polymorphisms in the protamine-1 (P1) and protamine-2 (P2) genes. The sequences originate at the transcription start site (ATG). Amino acid residues are shown on the top line and the nucleotide base sequence is shown below. Intron sequence is shaded yellow. Individual bases shaded in red represent sites of identified single nucleotide polymorphisms (SNPs), with the corresponding base changes shown below in bold. Amino acid changes associated with these SNPs are shown to the right of the original amino acid residue in red letters. Three SNPs were identified in the exons of P1. One of these (G102T) resulted in an amino acid change of arginine to serine (R33S). Seven SNPs were identified in the P2 gene. Two of these are located in exon 1, whereas the remaining five were found in the intron. Aoki. Protamine deficiency and gene variants. Fertil Steril 2006. Fertility and Sterility 2006 86, 1416-1422DOI: (10.1016/j.fertnstert.2006.04.033) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 Genomic DNA sequences and identified polymorphisms in the transition protein-1 (TP1) and transition protein-2 (TP2) genes. The sequences originate at the transcription start site (ATG). Amino acid residues are shown on the top line and the nucleotide base sequence is shown below. Intron sequence is shaded yellow. Individual bases shaded in red represent sites of identified single nucleotide polymorphisms (SNPs), with the corresponding base changes shown below in bold. Amino acid changes associated with these SNPs are shown to the right of the original amino acid residue in red letters. Two novel heterozygous polymorphisms were identified in the TP1 gene. One of these lies in exon 1 (A88G) and results in an amino-acid change of lysine to glutamate (K33E). The other (T213C) is located in the TP1 intron. Three heterozygous variants were identified in exon-1 of TP2, each of which result in an amino acid change. Aoki. Protamine deficiency and gene variants. Fertil Steril 2006. Fertility and Sterility 2006 86, 1416-1422DOI: (10.1016/j.fertnstert.2006.04.033) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions