The new protein identified is essential for the production of spermatozoids and eggs and the severe alteration of its genetic recombination rate can cause human infertility and Down syndrome.
Dr. Jose Luis Barbero (Chromosomal Dynamics in Meiosis Group) has collaborated in this study with the Group of the Dr. Alberto Pendás (CIC-CSIC, Salamanca) and they have identify a new function of the product of the gene already described as SIX6OS1. This gene had been reported previously as a gene involved in the development of the eye through its interaction with the factor of transcription SIX6. The sequence of this gene has a high degree of conservation with the human C14ORF39 and is expressed abundantly in testicle.
This study demonstrates that C14ORF39/SIX6OS1 encodes a component of the central element of synaptonemal complex. Mice deficient in this gene are defective in chromosome synapsis during meiosis, resulting in infertility.
Reference: Gómez-H L. et al. (2016). C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility. Nat. Commun. 2016 Oct 31;7:13298. doi: 10.1038/ncomms13298.