title: Expression of hypothetical proteins in human fetal brain: increased expression of hypothetical protein 28.5kDa in Down syndrome, a clue for its tentative role.
abstract: Major advances have been made in annotation of sequences of the human genome, although elucidating the functions of these newly discovered genes remains to be a strong challenge. In an effort to give insight into how triplication of chromosome 21 leads to mental retardation in Down syndrome, we have constructed a two-dimensional protein map from control and Down syndrome fetal brain and identified hypothetical proteins with no known functions. Subsequent quantitative analysis of these proteins revealed no apparent change in expression of hypothetical proteins DKZp564P0562.1 (fragment), 16.6, 21.4, 39.5, and 40kDa as well as putative 55kDa protein between controls and Down syndrome fetuses. By contrast, hypothetical protein 28.5kDa was significantly elevated (P<0.05) in fetal Down syndrome. This finding offers an important clue that a hypothetical protein might be involved in the pathomechanisms of brain abnormality in Down syndrome.
authors.affiliation: Department of Pediatrics, University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.
authors.forename: Ephrem
authors.initials: E
authors.lastname: Engidawork
authors.forename: Talin
authors.initials: T
authors.lastname: Gulesserian
authors.forename: Michael
authors.initials: M
authors.lastname: Fountoulakis
authors.forename: Gert
authors.initials: G
authors.lastname: Lubec
mesh_terms: D001921:Brain / Q000196:embryology*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics / Q000378:metabolism*; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D008297:Male; D014176:Protein Biosynthesis; D017434:Protein Structure, Tertiary; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization