Polymorphisms in the CPB2 Gene Are Maintained by Balancing Selection and Result in Haplotype-Preferential Splicing of Exon 7

被引：11
作者：
Cagliani, Rachele [1 ]
Fumagalli, Matteo [1 ,2 ]
Riva, Stefania [1 ]
Pozzoli, Uberto [1 ]
Fracassetti, Marco [1 ]
Bresolin, Nereo [1 ,3 ]
Comi, Giacomo P. [3 ]
Sironi, Manuela [1 ]
机构：
[1] Sci Inst IRCCS E Medea, Bioinformat Lab, Bosisio Parini, LC, Italy
[2] Politecn Milan, Dept Bioengn, I-20133 Milan, Italy
[3] Univ Milan, Dino Ferrari Ctr, IRCCS Osped Maggiore Policlin, Dept Neurol Sci,Mangiagalli & Regina Elena Fdn, Milan, Italy
来源：
MOLECULAR BIOLOGY AND EVOLUTION | 2010年 / 27卷 / 08期
关键词：
balancing selection; thrombin-activatable fibrinolysis inhibitor; alternative splicing; CPB2; THROMBIN-ACTIVATABLE FIBRINOLYSIS; TAFI-ANTIGEN LEVELS; INHIBITOR TAFI; CARBOXYPEPTIDASE-B; THERMAL-STABILITY; HUMAN GENOME; PLASMA; VARIANTS; PROTEIN; RISK;
D O I：
10.1093/molbev/msq082
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：
These data highlight the contribution of population genetics approaches to the analysis of functional genetic variation and may orient further biochemical and genetics studies on the pathophysiolgic role of CPB2 gene products.
引用
收藏
页码：1945 / 1954
页数：10
相关论文
共 56 条
  • [1] Overdominance in the human genome and olfactory receptor activity
    Alonso, Santos
    Lopez, Saioa
    Izagirre, Neskuts
    de la Rua, Concepcion
    [J]. MOLECULAR BIOLOGY AND EVOLUTION, 2008, 25 (05) : 997 - 1001
  • [2] [Anonymous], 1987, Molecular Evolutionary Genetics, DOI DOI 10.7312/NEI-92038
  • [3] Median-joining networks for inferring intraspecific phylogenies
    Bandelt, HJ
    Forster, P
    Röhl, A
    [J]. MOLECULAR BIOLOGY AND EVOLUTION, 1999, 16 (01) : 37 - 48
  • [4] Haploview: analysis and visualization of LD and haplotype maps
    Barrett, JC
    Fry, B
    Maller, J
    Daly, MJ
    [J]. BIOINFORMATICS, 2005, 21 (02) : 263 - 265
  • [5] Prothrombotic polymorphisms, mutations, and their association with pediatric non-cardioembolic stroke in Asian-Indian patients
    Biswas, Arijit
    Tiwari, Arun Kumar
    Ranjan, Ravi
    Meena, Arvind
    Akhter, Mohammad Suhail
    Yadav, Birendra Kumar
    Behari, Madhuri
    Saxena, Renu
    [J]. ANNALS OF HEMATOLOGY, 2009, 88 (05) : 473 - 478
  • [6] Plasma and recombinant thrombin-activable fibrinolysis inhibitor (TAFI) and activated TAFI compared with respect to glycosylation, thrombin/thrombomodulin-dependent activation, thermal stability, and enzymatic properties
    Boffa, MB
    Wang, W
    Bajzar, L
    Nesheim, ME
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (04) : 2127 - 2135
  • [7] Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis
    Boffa, Michael B.
    Maret, Deborah
    Hamill, Jeffrey D.
    Bastajian, Nazareth
    Crainich, Paul
    Jenny, Nancy S.
    Tang, Zhonghua
    Macy, Elizabeth M.
    Tracy, Russell P.
    Franco, Rendrik F.
    Nesheim, Michael E.
    Koschinsky, Marlys L.
    [J]. BLOOD, 2008, 111 (01) : 183 - 189
  • [8] Curiouser and curiouser: Recent advances in measurement of thrombin-activatable fibirinolysis inhibitor (TAFI) and in understanding its molecular genetics, gene regulation, and biological roles
    Boffa, Michael B.
    Koschinsky, Marlys L.
    [J]. CLINICAL BIOCHEMISTRY, 2007, 40 (07) : 431 - 442
  • [9] Biochemical importance of glycosylation in thrombin activatable fibrinolysis inhibitor
    Buelens, Karlien
    Hillmayer, Kerstin
    Compernolle, Griet
    Declerck, Paul J.
    Gils, Ann
    [J]. CIRCULATION RESEARCH, 2008, 102 (03) : 295 - 301
  • [10] Natural selection on protein-coding genes in the human genome
    Bustamante, CD
    Fledel-Alon, A
    Williamson, S
    Nielsen, R
    Hubisz, MT
    Glanowski, S
    Tanenbaum, DM
    White, TJ
    Sninsky, JJ
    Hernandez, RD
    Civello, D
    Adams, MD
    Cargill, M
    Clark, AG
    [J]. NATURE, 2005, 437 (7062) : 1153 - 1157
123456