SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

• Published in: American journal of human genetics Vol. 106; no. 1; pp. 41 - 57
• Main Authors: Schilit, Samantha L.P., Menon, Shreya, Friedrich, Corinna, Kammin, Tammy, Wilch, Ellen, Hanscom, Carrie, Jiang, Sizun, Kliesch, Sabine, Talkowski, Michael E., Tüttelmann, Frank, MacQueen, Amy J., Morton, Cynthia C.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 02.01.2020; Elsevier
• Subjects: Adult; balanced reciprocal translocation; Cell Cycle Proteins - genetics; Chromosome Aberrations; DNA-Binding Proteins - genetics; Female; Frameshift Mutation; Humans; Infertility, Male - etiology; Infertility, Male - pathology; Karyotyping; Male; male infertility; meiosis; molecular cytogenetics; Oligospermia - etiology; Oligospermia - pathology; Pedigree; Phenotype; reproductive genetics; topologically associating domain; Translocation, Genetic; balanced reciprocal translocation; meiosis; molecular cytogenetics; reproductive genetics; male infertility; topologically associating domain

Unexplained infertility affects 2%–3% of reproductive-aged couples. One approach to identifying genes involved in infertility is to study subjects with this clinical phenotype and a de novo balanced chromosomal aberration (BCA). While BCAs may reduce fertility by production of unbalanced gametes, a...