Novel roles of U1 snRNP in alternative splicing regulation

被引:32
作者
Buratti, Emanuele [2 ]
Baralle, Diana [1 ]
机构
[1] Univ Southampton, Southampton Gen Hosp, Human Genet Div, Southampton, Hants, England
[2] ICGEB, Trieste, Italy
关键词
U1snRNP; 5 ' splice site; alternative splicing; pre-mRNA processing; PRE-MESSENGER-RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; VIRUS NEGATIVE REGULATOR; INHIBITOR ELEMENT; MAMMALIAN-CELLS; GENE-EXPRESSION; SR PROTEINS; HNRNP H; EXON; SPLICEOSOME;
D O I
10.4161/rna.7.4.12153
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Since its discovery in the early days of splicing research, U1snRNP has been recognized as a crucial player in the early stages of the splicing process. In particular, binding of U1snRNP to the 5'splice site of exons is a fundamental step in the formation of the early splicing complex and directs the subsequent assembly of the functional spliceosome. In recent years, the way that the U1snRNP molecular complexes recognize real 5' ss sequences from a huge background of similar decoy sequences has been extensively studied. In this review, we will provide an account of the latest functional properties of U1snRNP as a splicing factor, its role in transcriptional and mRNA degradation processes, and how these properties can be exploited to act as prospective therapeutic or gene silencing strategies. Finally, we will discuss the latest experimental evidence that challenges the absolute requirement of U1snRNP presence for splicing to take place.
引用
收藏
页码:412 / 419
页数:8
相关论文
共 102 条
[1]   Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon [J].
Akker, Scott A. ;
Misra, Shivani ;
Aslam, Shazad ;
Morgan, Emma L. ;
Smith, Philip J. ;
Khoo, Bernard ;
Chew, Shern L. .
MOLECULAR ENDOCRINOLOGY, 2007, 21 (10) :2529-2540
[2]   Splicing in action: assessing disease causing sequence changes [J].
Baralle, D ;
Baralle, M .
JOURNAL OF MEDICAL GENETICS, 2005, 42 (10) :737-748
[3]   Missed threads The impact of pre-mRNA splicing defects on clinical practice [J].
Baralle, Diana ;
Lucassen, Anneke ;
Buratti, Emanuele .
EMBO REPORTS, 2009, 10 (08) :810-816
[4]   Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay [J].
Baralle, M ;
Baralle, D ;
De Conti, L ;
Mattocks, C ;
Whittaker, J ;
Knezevich, A ;
Ffrench-Constant, C ;
Baralle, FE .
JOURNAL OF MEDICAL GENETICS, 2003, 40 (03) :220-222
[5]   NF1 mRNA biogenesis:: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region [J].
Baralle, Marco ;
Skoko, Natasa ;
Knezevich, Anna ;
De Conti, Laura ;
Motti, Dario ;
Bhuvanagiri, Madhuri ;
Baralle, Diana ;
Buratti, Emanuele ;
Baralle, Francisco E. .
FEBS LETTERS, 2006, 580 (18) :4449-4456
[6]   Cellular stress and RNA splicing [J].
Biamonti, Giuseppe ;
Caceres, Javier F. .
TRENDS IN BIOCHEMICAL SCIENCES, 2009, 34 (03) :146-153
[7]   Signals, pathways and splicing regulation [J].
Blaustein, Matias ;
Pelisch, Federico ;
Srebrow, Anabella .
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 2007, 39 (11) :2031-2048
[8]   Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better? [J].
Buratti, E ;
Baralle, FE ;
Pagani, F .
TRENDS IN MOLECULAR MEDICINE, 2003, 9 (06) :229-232
[9]   RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events [J].
Buratti, Emanuele ;
Dhir, Ashish ;
Lewandowska, Marzena A. ;
Baralle, Francisco E. .
NUCLEIC ACIDS RESEARCH, 2007, 35 (13) :4369-4383
[10]   Defective splicing, disease and therapy: searching for master checkpoints in exon definition [J].
Buratti, Emanuele ;
Baralle, Marco ;
Baralle, Francisco E. .
NUCLEIC ACIDS RESEARCH, 2006, 34 (12) :3494-3510