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The Genetics of Abnormal Protamine Expression

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The Genetics of Male Infertility

Abstract

During spermiogenesis, the sperm chromatin undergoes dramatic remodeling. The testis-specific protamine proteins facilitate these nuclear changes by replacing the somatic cell histones, a process that produces highly condensed, transcriptionally silent chromatin. In humans, there are two forms of sperm protamine: protamine 1 (P1) and protamine 2 (P2), which occur in a strictly regulated 1:1 ratio. Sperm protamine-deficiency and P1:P2 ratio deregulation have been implicated in male infertility. The details of the underlying genetic basis of abnormal protamine expression are just emerging. This chapter summarizes our current knowledge of the sperm protamines, their relationship with male infertility, and what is currently understood regarding the genetic basis of abnormal protamine expression.

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Aoki, V.W., Carrell, D.T. (2007). The Genetics of Abnormal Protamine Expression. In: Carrell, D.T. (eds) The Genetics of Male Infertility. Humana Press. https://doi.org/10.1007/978-1-59745-176-5_19

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