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Titolo:
Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states
Autore:
Schaner, P; Richards, N; Wadhwa, A; Aksentijevich, I; Kastner, D; Tucker, P; Gumucio, D;
Indirizzi:
Univ Michigan, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 & Dev Biol, Ann Arbor, MI 48109 USA Univ Michigan, Cellular & Mol Biol Program, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 iol Program, Ann Arbor, MI 48109 USA Univ Michigan, Museum Zool, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 Museum Zool, Ann Arbor, MI 48109 USA Univ Michigan, Dept Biol, Ann Arbor, MI 48109 USA Univ Michigan Ann ArborMI USA 48109 , Dept Biol, Ann Arbor, MI 48109 USA NIAMSD, NIH, Bethesda, MD 20892 USA NIAMSD Bethesda MD USA 20892NIAMSD, NIH, Bethesda, MD 20892 USA
Titolo Testata:
NATURE GENETICS
fascicolo: 3, volume: 27, anno: 2001,
pagine: 318 - 321
SICI:
1061-4036(200103)27:3<318:EEOPIP>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL MEDITERRANEAN-FEVER; HIGH GENE-FREQUENCY; MEFV; SUBSTITUTION; INHERITANCE; SELECTION; SITES; FMF;
Tipo documento:
Letter
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Gumucio, D Univ Michigan, Dept Cell & Dev Biol, Ann Arbor, MI 48109 USA Univ Michigan Ann Arbor MI USA 48109 , Ann Arbor, MI 48109 USA
Citazione:
P. Schaner et al., "Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states", NAT GENET, 27(3), 2001, pp. 318-321

Abstract

Familiar Mediterranean fever (FMF; MIM 249100) is an autosomal recessive disease characterized by recurrent attacks of fever with synovial, pleural or peritoneal inflammation(1). The disease is caused by mutations in the gene encoding the pyrin protein(2-4), Human population studies have revealed extremely high allele frequencies for several different pyrin mutations, leading to the conclusion that the mutant alleles confer a selective advantage(5-7). Here we examine the ret finger protein (rfp) domain (which contains most of the disease-causing mutations) of pyrin during primate evolution. Amino acids that cause human disease are often present as wild type in otherspecies. This is true at positions 653 (a novel mutation), 680, 681. 726. 744 and 761, For several of these human mutations, the mutant represents the reappearance of an ancestral amino acid state. Examination of lineage-specific d(N)/d(S) ratios revealed a pattern consistent with the signature of episodic positive selection, Our data, together with previous human population studies, indicate that selective pressures may have caused functional evolution of pyrin in humans and other primates.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 16:26:47