Article

<i>SYCP2</i> translocation-mediated dysregulation and frameshift variants cause human male infertility

2019-05-17

Abstract excerpt

<h4>ABSTRACT</h4> Infertility is one of the most common disorders for men of reproductive age. To identify novel genetic etiologies, we studied a male with severe oligozoospermia and 46, XY,t(20;22)(q13.3;q11.2). We identified exclusive overexpression of SYCP2 from the der(20) allele that is hypothesized to result from enhancer adoption. Modeling the dysregulation in budding yeast resulted in disruption of the s...

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Literature Corpus work: 44176818-be33-5a7a-be56-2c2097c4b721
DOI: 10.1101/641928

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