The TSPY Gene Family

Dear Colleagues,

The testis-specific protein Y encoded (TSPY) gene is one of the first genes identified on the human Y chromosome. TSPY is a tandemly repeated and evolutionarily conserved gene on the mammalian Y chromosome. Importantly it is the putative gene for the gonadoblastoma locus on the Y chromosome (GBY), responsible for predisposing dysgenetic gonads of XY sex-reversed and intersex patients for gonadoblastoma development. TSPY encodes a variety of polymorphic proteins harboring a conserved domain, termed SET/NAP domain found in the SET oncoprotein and nucleosome assembly protein 1.
Various studies show that TSPY is a founding member of a family of proteins, termed TSPY-like proteins harboring the same homologous SET/NAP domain. In particular, an X-located single-copy homologue, designed recently as TSPX (and other designations), shows similar gene organization and protein structure. Interestingly TSPY and TSPX possess contrasting properties and have been considered to be a proto-oncogene and tumor suppressor respectively. TSPY and TSPY-like genes serve diverse functions, including cell cycle regulation, transcription regulation, neurotransmission, meiotic division, tumor suppression and promotion. Mutations and/or dysregulation of TSPY gene family members are associated with various human diseases, including infertility, cancers, diabetes, and neural dysfunctions.
The purpose of this special issue of Genes is to summarize the current advances in research on TSPY gene family by various established investigators in the field, focusing on the evolution, genomic organization, protein structures, biological functions in normal development and physiology, and pathogeneses of various diseases.

Prof. Dr. Yun-Fai Chris Lau
Guest Editor