title: Syndromes associated with Homo sapiens pol II regulatory genes.
abstract: The molecular basis of human characteristics is an intriguing but an unresolved problem. Human characteristics cover a broad spectrum, from the obvious to the abstract. Obvious characteristics may include morphological features such as height, shape, and facial form. Abstract characteristics may be hidden in processes that are controlled by hormones and the human brain. In this review we examine exaggerated characteristics presented as syndromes. Specifically, we focus on human genes that encode transcription factors to examine morphological, immunological, and hormonal anomalies that result from deletion, insertion, or mutation of genes that regulate transcription by RNA polymerase II (the Pol II genes). A close analysis of abnormal phenotypes can give clues into how sequence variations in regulatory genes and changes in transcriptional control may give rise to characteristics defined as complex traits.
authors.affiliation: Department of Chemistry, Purdue University, West Lafayette, Indiana 47097, USA.
authors.forename: M
authors.initials: M
authors.lastname: Bina
authors.forename: S
authors.initials: S
authors.lastname: Demmon
authors.forename: E I
authors.initials: EI
authors.lastname: Pares-Matos
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D000013:Congenital Abnormalities / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004257:DNA Polymerase II / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D005786:Gene Expression Regulation; D005802:Genes, MHC Class II; D005809:Genes, Regulator; D006801:Humans; D008954:Models, Biological; D008958:Models, Molecular; D008969:Molecular Sequence Data; D011956:Receptors, Cell Surface / Q000235:genetics; D013577:Syndrome
chemical_list: D011956:Receptors, Cell Surface; D004257:DNA Polymerase II