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Abstract

Volume 12, Issue 4 (July 2010) 12, 556–560; 10.1038/aja.2010.47

A newly discovered mutation in PICK1 in a human with globozoospermia

Gang Liu, Qiu-Wen Shi and Guang-Xiu Lu

Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China

Correspondence: Dr Guang-Xiu Lu, Dr Guang-Xiu Lu, Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha 410078, China. Fax: +86-731-8449-7661 E-mail: lugxdirector@yahoo.com.cn

Received 7 December 2009; Revised 12 February 2010; Accepted 27 April 2010; Published online 21 June 2010.

Abstract

Globozoospermia is a human infertility syndrome caused by spermatogenesis defects (OMIM 102530). Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Thus, malformation of the acrosome is the most prominent feature seen in globozoospermia. Disruption of several mouse genes, including Gopc (Golgi-associated PDZ and coiled-coil motif containing protein), Hrb (HIV-1 Rev binding protein), Csnk2a2 (casein kinase 2, α prime polypeptide) and Pick1 (protein interacting with C kinase 1), results in a phenotype similar to globozoospermia in humans, which suggests their potential role in the disease. However, no mutations with a clear link to globozoospermia have been identified in these genes in humans. In this study, we screened the candidate genes mentioned above in three globozoospermia type I patients and discovered a homozygous missense mutation (G198A) in exon 13 of the PICK1 gene in a Chinese family. The family member affected by this homozygous missense mutation showed a complete lack of acrosome. Using the candidate gene screening strategy, our study is the first to identify an autosomal recessive genetic mutation in PICK1 that was responsible for globozoospermia in humans.

Keywords: acrosome; globozoospermia; PICK1

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