Dlec1 is required for spermatogenesis and male fertility in mice

Deleted in lung and esophageal cancer 1 (DLEC1) is a tumour suppressor gene that is downregulated in various cancers in humans; however, the physiological and molecular functions ofDLEC1are still unclear. This study investigated the critical role ofDlec1in spermatogenesis and male fertility in mice.Dlec1was significantly expressed in testes, with dominant expression in germ cells. We disruptedDlec1in mice and analysed its function in spermatogenesis and male fertility.Dlec1deletion caused male infertility due to impaired spermatogenesis. Spermatogenesis progressed normally to step 8 spermatids inDlec1−/−mice, but in elongating spermatids, we observed head deformation, a shortened tail, and abnormal manchette organization. These phenotypes were similar to those of various intraflagellar transport (IFT)-associated gene-deficient sperm. In addition, DLEC1 interacted with tailless complex polypeptide 1 ring complex (TRiC) and Bardet–Biedl Syndrome (BBS) protein complex subunits, as well as α- and β-tubulin. DLEC1 expression also enhanced primary cilia formation and cilia length in A549 lung adenocarcinoma cells. These findings suggest that DLEC1 is a possible regulator of IFT and plays an essential role in sperm head and tail formation in mice.