"The scientists used a duplex sequencing technique called NanoSeq, which can detect rare mutations with a very low margin of error. This allowed them to analyze 81 sperm samples from 57 donors. The results showed that a man's sperm adds an average of 1.67 new mutations every year."
"But the most striking aspect of the study is not limited to the mere accumulation of mutations with age. The authors discovered that the male germ line is subject to positive selection. That is, certain mutations offer an advantage to cells that produce sperm and expand. They identified that many of these mutations are in genes related to developmental disorders or a predisposition to childhood cancer."
"The researchers estimated that about 3 to 5 percent of sperm from middle-aged and older men carry some potentially pathogenic mutation in the exome (the coding part of the genome). That represents a higher risk than previous estimates. In more concrete numbers, the estimated fraction for men in their thirties was close to 2 percent, while it reached about 4.5 percent for men in their seventies."
Male sperm accumulates about 1.67 new mutations per year on average. Sequencing of semen from donors aged 24 to 75 with high-precision NanoSeq revealed rare mutations across the male germ line. The germ line undergoes both mutation and positive selection, causing certain advantageous mutations to clonally expand in sperm-producing cells. Many of the selected mutations occur in genes associated with developmental disorders or a predisposition to childhood cancer. The proportion of sperm carrying potentially pathogenic exome mutations rises with age, roughly 2% in the thirties, about 3–5% in middle-aged and older men, and approximately 4.5% in the seventies. This shift increases the risk of disease in offspring.
Read at WIRED
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