Paper Report for: Lindblad-Toh_2011_Nature_478_476 Reference
Title: A high-resolution map of human evolutionary constraint using 29 mammals
Lindblad-Toh K , Garber M , Zuk O , Lin MF , Parker BJ , Washietl S , Kheradpour P , Ernst J , Jordan G and Kellis M <76 more author(s)> Lindblad-Toh K , Garber M , Zuk O , Lin MF , Parker BJ , Washietl S , Kheradpour P , Ernst J , Jordan G , Mauceli E , Ward LD , Lowe CB , Holloway AK , Clamp M , Gnerre S , Alfoldi J , Beal K , Chang J , Clawson H , Cuff J , Di Palma F , Fitzgerald S , Flicek P , Guttman M , Hubisz MJ , Jaffe DB , Jungreis I , Kent WJ , Kostka D , Lara M , Martins AL , Massingham T , Moltke I , Raney BJ , Rasmussen MD , Robinson J , Stark A , Vilella AJ , Wen J , Xie X , Zody MC , Baldwin J , Bloom T , Chin CW , Heiman D , Nicol R , Nusbaum C , Young S , Wilkinson J , Worley KC , Kovar CL , Muzny DM , Gibbs RA , Cree A , Dihn HH , Fowler G , Jhangiani S , Joshi V , Lee S , Lewis LR , Nazareth LV , Okwuonu G , Santibanez J , Warren WC , Mardis ER , Weinstock GM , Wilson RK , Delehaunty K , Dooling D , Fronik C , Fulton L , Fulton B , Graves T , Minx P , Sodergren E , Birney E , Margulies EH , Herrero J , Green ED , Haussler D , Siepel A , Goldman N , Pollard KS , Pedersen JS , Lander ES , Kellis M (- 76) Ref: Nature,
478 :476, 2011 :
PubMed Abstract PubMedSearch: Lindblad-Toh 2011 Nature 478 476 PubMedID: 21993624 Gene_locus related to this paper: cavpo-1plip ,
cavpo-2plrp ,
cavpo-h0v1b7 ,
cavpo-h0v5v8 ,
cavpo-h0vj36 ,
cavpo-lipli ,
rabit-1hlip ,
rabit-1plip ,
rabit-g1t6x7 ,
rabit-LIPH ,
myolu-l7n1c2 ,
myolu-g1pqd9 ,
cavpo-h0uyz6 ,
cavpo-h0vi56 ,
rabit-g1tbj4 ,
myolu-g1p5c0 ,
rabit-g1sds3 ,
rabit-g1sye0 ,
cavpo-h0v0r2 ,
cavpo-h0v7s5 ,
rabit-g1sp43 ,
myolu-g1p4p3 ,
cavpo-h0vw09 ,
rabit-g1ssu3 ,
myolu-g1pds0 ,
rabit-g1sic4 ,
cavpo-h0v2c4 ,
myolu-g1pg61 ,
myolu-g1pnb1 ,
myolu-g1pu06 ,
myolu-g1qa15 ,
myolu-g1qfu0 ,
rabit-g1sn99 ,
rabit-g1snq9 ,
rabit-g1sns7 ,
rabit-g1tuu8 ,
rabit-g1tzq7 ,
cavpo-h0v2i2 ,
cavpo-h0v2j0 ,
cavpo-h0vsf5 ,
cavpo-a0a286x8d3 ,
cavpo-a0a286xbr3 ,
cavpo-a0a286y0i8 ,
cavpo-a0a286y4p3 ,
myolu-g1q2n9 ,
cavpo-h0v1p4 ,
myolu-g1pan8 ,
myolu-g1paq0 ,
myolu-g1par4 ,
myolu-g1prn3 ,
myolu-g1q3i0 ,
myolu-g1q463 ,
myolu-g1pat6 ,
myolu-g1q859 ,
rabit-g1sul9 ,
rabit-g1sun0 ,
rabit-g1sup0 ,
myolu-l7n125 ,
myolu-g1pan2 ,
rabit-g1sxd0 ,
cavpo-h0v8j4 ,
rabit-d5fit0 ,
rabit-g1tkr5 ,
myolu-g1nty6 ,
myolu-g1p1p3 ,
cavpo-h0vdd5 ,
myolu-g1pdp2 ,
rabit-g1tmm5 ,
cavpo-h0vhq3 ,
myolu-g1nth4 ,
cavpo-h0vqx6 ,
rabit-g1tqr7 ,
myolu-g1p1e9 ,
cavpo-h0v8y6 ,
rabit-g1skt3 ,
myolu-g1nzg3 ,
cavpo-h0v5z0 ,
rabit-g1sgz5 ,
myolu-g1pkg5 ,
rabit-g1tmw5 ,
rabit-g1t134 ,
cavpo-a0a286x9v5 ,
myolu-g1qc57 ,
myolu-g1q061 ,
rabit-g1tnp4 ,
rabit-g1tyf7 ,
cavpo-h0w2w1 ,
rabit-g1ta36 ,
cavpo-h0w342 ,
myolu-g1q4e3 ,
rabit-g1sqa1 ,
cavpo-h0uxk7 ,
myolu-g1p353 ,
cavpo-h0vpm0 ,
rabit-a0a5f9cru6 ,
cavpo-a0a286xtc0 Abstract
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering approximately 4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for approximately 60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.
Related information
Gene_Locus | cavpo-1plip , cavpo-2plrp , cavpo-h0v1b7 , cavpo-h0v5v8 , cavpo-h0vj36 , cavpo-lipli , rabit-1hlip , rabit-1plip , rabit-g1t6x7 , rabit-LIPH , myolu-l7n1c2 , myolu-g1pqd9 , cavpo-h0uyz6 , cavpo-h0vi56 , rabit-g1tbj4 , myolu-g1p5c0 , rabit-g1sds3 , rabit-g1sye0 , cavpo-h0v0r2 , cavpo-h0v7s5 , rabit-g1sp43 , myolu-g1p4p3 , cavpo-h0vw09 , rabit-g1ssu3 , myolu-g1pds0 , rabit-g1sic4 , cavpo-h0v2c4 , myolu-g1pg61 , myolu-g1pnb1 , myolu-g1pu06 , myolu-g1qa15 , myolu-g1qfu0 , rabit-g1sn99 , rabit-g1snq9 , rabit-g1sns7 , rabit-g1tuu8 , rabit-g1tzq7 , cavpo-h0v2i2 , cavpo-h0v2j0 , cavpo-h0vsf5 , cavpo-a0a286x8d3 , cavpo-a0a286xbr3 , cavpo-a0a286y0i8 , cavpo-a0a286y4p3 , myolu-g1q2n9 , cavpo-h0v1p4 , myolu-g1pan8 , myolu-g1paq0 , myolu-g1par4 , myolu-g1prn3 , myolu-g1q3i0 , myolu-g1q463 , myolu-g1pat6 , myolu-g1q859 , rabit-g1sul9 , rabit-g1sun0 , rabit-g1sup0 , myolu-l7n125 , myolu-g1pan2 , rabit-g1sxd0 , cavpo-h0v8j4 , rabit-d5fit0 , rabit-g1tkr5 , myolu-g1nty6 , myolu-g1p1p3 , cavpo-h0vdd5 , myolu-g1pdp2 , rabit-g1tmm5 , cavpo-h0vhq3 , myolu-g1nth4 , cavpo-h0vqx6 , rabit-g1tqr7 , myolu-g1p1e9 , cavpo-h0v8y6 , rabit-g1skt3 , myolu-g1nzg3 , cavpo-h0v5z0 , rabit-g1sgz5 , myolu-g1pkg5 , rabit-g1tmw5 , rabit-g1t134 , cavpo-a0a286x9v5 , myolu-g1qc57 , myolu-g1q061 , rabit-g1tnp4 , rabit-g1tyf7 , cavpo-h0w2w1 , rabit-g1ta36 , cavpo-h0w342 , myolu-g1q4e3 , rabit-g1sqa1 , cavpo-h0uxk7 , myolu-g1p353 , cavpo-h0vpm0 , rabit-a0a5f9cru6 , cavpo-a0a286xtc0
Citations formats
Lindblad-Toh K, Garber M, Zuk O, Lin MF, Parker BJ, Washietl S, Kheradpour P, Ernst J, Jordan G, Mauceli E, Ward LD, Lowe CB, Holloway AK, Clamp M, Gnerre S, Alfoldi J, Beal K, Chang J, Clawson H, Cuff J, Di Palma F, Fitzgerald S, Flicek P, Guttman M, Hubisz MJ, Jaffe DB, Jungreis I, Kent WJ, Kostka D, Lara M, Martins AL, Massingham T, Moltke I, Raney BJ, Rasmussen MD, Robinson J, Stark A, Vilella AJ, Wen J, Xie X, Zody MC, Baldwin J, Bloom T, Chin CW, Heiman D, Nicol R, Nusbaum C, Young S, Wilkinson J, Worley KC, Kovar CL, Muzny DM, Gibbs RA, Cree A, Dihn HH, Fowler G, Jhangiani S, Joshi V, Lee S, Lewis LR, Nazareth LV, Okwuonu G, Santibanez J, Warren WC, Mardis ER, Weinstock GM, Wilson RK, Delehaunty K, Dooling D, Fronik C, Fulton L, Fulton B, Graves T, Minx P, Sodergren E, Birney E, Margulies EH, Herrero J, Green ED, Haussler D, Siepel A, Goldman N, Pollard KS, Pedersen JS, Lander ES, Kellis M (2011) Nature 478 : 476-82Nature 478 : 476-82
