היו עוד תגליות בנושא מאז 2006
בקשר לאותו DUF:
DUF1220 protein domains have also generated interest because copy number variations (CNVs) in the 1q21.1 region, where most DUF1220 sequences map, have been implicated in numerous re-current human developmental and neurogenetic diseases (Dumas and Sikela 2009). These include microcephaly and macrocephaly (Brunetti-Pierri et al . 2008; Velinov and Dolzhanskaya 2010), autism (Autism Genome Project Consortium 2007; Pinto et al . 2 01 0) , schizo -phrenia (International Schizophrenia Consortium 2008; Levinsonet al. 2011), mental retardation (Mefford et al . 2 00 8; Jaillard et al .2010), congenital heart disease (Christiansenet al . 2004; Greenway et al . 2009), congenital anomalies of the kidney and urinary tract (Weber et al . 2011), and neuroblastoma (Vandepoele et al . 2008;Diskin et al . 2009). Interestingly, a recent study has implicated DUF1220 domain copy number loss in the etiology of 1q21-associated microcephaly, and provides support for the view that DUF1220 copy number may function as a key general effecter of evolutionary, path-ological, and normal variation in brain size among primate (and human) lineages (Dumas et al. 2012).
