Functional analysis of CCDC54, a protein likely involved in spermatogenesis.

Annelien Massart, Karine Breckpot, Herman Tournaye, Willy Lissens, Katrien Stouffs

Research output: Contribution to journalEditorial


In search for proteins involved in the complex process of spermatogenesis, coiled-coil domain containing 54 protein (CCDC54), a human testis-expressed protein with unknown function, was studied. Expression of this gene is predomintantly in testis and in silico analysis of the CCDC54 gene suggested it is a conserved gene. A yeast two hybrid screening was performed, which identified Testis specific Zinc Finger Protein (TZFP), a transcriptional repressor, as a binding partner of CCDC54. To further investigate the effect of the binding of CCDC54 on the activity of TZFP, a luciferase reporter assay was performed. This suggested that CCDC54 is a negative co-regulator of TZFP. Immunohistochemical staining of human testis tissue shows an overall expression of the CCDC54 protein in the seminiferous tubules.
At the DNA level, conservation of the CCDC54 gene was verified and mutation analysis was performed. To detect the reported c.316G>T or p.Glu106X polymorphism, a restriction digestion with BccI was performed on a control group of 150 European normozoospermic men, but the polymorphism was not found. The CCDC54 gene of 16 European men with a maturation arrest of spermatogenesis and 32 European men with Sertoli cell-only syndrome (SCOS) was sequenced and only one missense mutation was found in 2 SCOS patients.
These preliminary results suggest that CCDC54 could be an important protein for spermatogenesis.
Original languageEnglish
Pages (from-to)159-159
Number of pages1
JournalEur J Hum Genet
Issue number19
Publication statusPublished - 28 May 2011


  • CCDC54


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