Study of a new member of the Myelin Protein Zero Family

The study of genomes is an active research area that raises much public interest. Since the sequencing of the human genome, numerous other genome projects were started and today we have sequence information of over 1000 organisms. However, the function of approximately half of all genes in human and other vertebrate species is still unknown. Therefore, the functional annotation of genome sequences is now the major challenge. Functional annotation of the human genome can be supported by loss-of-function studies in model organisms and by the analysis of mutations that associate with human disorders. The work described in this thesis is focused on the investigation of Mpzl3, a novel gene with unknown function that was identified through mapping of the rough coat mutation in mice. The Mpzl3 gene is a member of the myelin protein zero family that consists of proteins containing immunoglobulin domains and with suggested roles related to immune function and cell adhesion. Functional studies of the Mpzl3 gene in two model organisms, mouse and zebrafish, and investigations of the human orthologue by in silico techniques, suggested that the product of this gene plays a role in the immune system and is a potential candidate gene for immune-related hereditary hair loss diseases in human.