[01] DNA and Human Genome英文文献资料.pdfVIP

DNA, Gene Structure and Function ZHANG Xian-Ning, PhD zhangxianning@ Tel Office: C303, Teaching Building 2016/02 An adult organism has an estimated 37 trillion cells Cell types: 200 Cells = 2 organisms: nucleus – cytosol + mt Gene: a basic unit of heredity • Chemically: A specific DNA fragment, which can be duplicated and mutated • In physics: Arranged on chromosome linearly, can be exchanged and transmitted to the next generation • Functionally: Controlling the expression of specific characteristics of a living organism Nomenclature of genes proteins • www.gene.ucl.ac.uk/nomenclature/index.html • Antonarakis SE. (1998) Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat. 11:1-3 • den Dunnen JT, Antonarakis SE. (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat. 15:7-12 Split gene - structural gene Exon: Encoding sequences, corresponding to the sequence of mRNA Intron (IVS): Non-encoding sequences, corresponding RNA sequence will be removed from mRNA Flanking sequence • Gene can be expanded, including the regulatory regions on both sides which are required for initiating and terminating gene expression sometimes: Promoter, Enhancer, Terminator Transcription begins near promoter sites and ends at terminator sites • A Promoter is a region of DNA where RNA polymerase binds to initiate transcription. Enhancer • Promoter-specific: only enhancing the transcription of gene in which the promoter is corresponding with the enhancer • Tissue-specific: Ig gene enhancer is