Abstract：
:In the present study we focus on the nucleotide and the inferred amino acid variation occurring in humans and other primate species for mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase, a gene recently supposed to contribute to cognitive performance in humans. We determined 2527 bp of coding, intronic, and flanking sequences from chimpanzee, bonobo, gorilla, orangutan, gibbon, and macaque. We also resequenced the entire coding sequence on 39 independent chromosomes from Italian families. Four variable coding sites were genotyped in additional populations from Europe, Africa, and Asia. A test for constancy of the nonsynonymous vs. synonymous rates of nucleotide changes revealed that primates are characterized by largely variable d(N)/d(S) ratios. On a background of strong conservation, probably controlled by selective constraints, the lineage leading to humans showed a ratio increased to 0.42. Human polymorphic levels fall in the range reported for other genes, with a pattern of frequency and haplotype structure strongly suggestive of nonneutrality. The comparison with the primate sequences allowed inferring the ancestral state at all variable positions, suggesting that the c.538(C) allele and the associated functional variant is indeed a derived state that is proceeding to fixation. The unexpected pattern of human polymorphism compared to interspecific findings outlines the possibility of a recent positive selection on some variants relevant to new cognitive capabilities unique to humans.
journal_name
J Mol Evoljournal_title
Journal of molecular evolutionauthors
Blasi P,Palmerio F,Aiello A,Rocchi M,Malaspina P,Novelletto Adoi
10.1007/s00239-005-0154-8subject
Has Abstractpub_date
2006-07-01 00:00:00pages
54-68issue
1eissn
0022-2844issn
1432-1432journal_volume
63pub_type
杂志文章abstract：:Gamete-recognition proteins have been shown to evolve by positive selection in diverse organism groups, such as marine invertebrates and mammals, although underlying evolutionary mechanisms driving this rapid divergence are poorly understood. However, several hypotheses have been put forward to explain the observed pa...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-008-9165-6
更新日期：2008-11-01 00:00:00
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更新日期：2008-11-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02100041
更新日期：1987-01-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02099931
更新日期：1991-01-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-017-9796-6
更新日期：2017-06-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/pl00000066
更新日期：1997-01-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-004-2606-y
更新日期：2004-07-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02498635
更新日期：1996-04-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/pl00006391
更新日期：1998-09-01 00:00:00
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journal_title：Journal of molecular evolution
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更新日期：2020-08-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/pl00006312
更新日期：1998-03-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02102318
更新日期：1983-01-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF00166592
更新日期：1995-01-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s002390010120
更新日期：2000-12-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-018-9846-8
更新日期：2018-06-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-003-2459-9
更新日期：2003-07-01 00:00:00
abstract：:Intron-encoded U17 RNA is a member of the H/ACA box class of small nucleolar RNAs (snoRNAs) involved in ribosomal RNA (rRNA) maturation. U17 snoRNA shows typical characteristics of guide RNAs, which specify sites of pseudouridylation on the precursor rRNA (pre-rRNA). However, in spite of the presence of H and ACA boxe...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-001-0065-2
更新日期：2002-02-01 00:00:00
abstract：:Response regulators of bacterial sensory transduction systems generally consist of receiver module domains covalently linked to effector domains. The effector domains include DNA binding and/or catalytic units that are regulated by sensor kinase-catalyzed aspartyl phosphorylation within their receiver modules. Most re...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF00167109
更新日期：1995-02-01 00:00:00
abstract：:Twenty-one different caprine and 13 ovine MHC-DRB exon 2 sequences were determined including part of the adjacent introns containing simple repetitive (gt)n(ga)m elements. The positions for highly polymorphic DRB amino acids vary slightly among ungulates and other mammals. From man and mouse to ungulates the basic (gt...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF00175503
更新日期：1993-09-01 00:00:00
abstract：:We report the sequence of A/B.L1, a tightly linked pair of genes from the A and B chorion families in Bombyx mori. Comparison with the previously characterized A/B.L11 and A/B.L12 pairs from the same species reveals moderate sequence divergence, which is clearly nonuniform. Although the average divergence of A/B.L12 f...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02602909
更新日期：1989-11-01 00:00:00
abstract：:Skin pigmentation is a complex, conspicuous, highly variable human trait that exhibits a remarkable correlation with latitude. The evolutionary history and genetic basis of skin color variation has been the subject of intense research in the last years. This article reviews the major hypotheses explaining skin color d...
journal_title：Journal of molecular evolution
pub_type： 杂志文章,评审
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更新日期：2020-01-01 00:00:00
abstract：:Two families of high-cysteine chorion proteins in Bombyx mori are encoded in 15 tandemly arranged nonidentical gene pairs. It is assumed that this locus arose by duplication with subsequent sequence divergence. We have compared DNA sequences from two such neighboring pairs of genes in an attempt to understand the mann...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02104732
更新日期：1984-01-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF02352288
更新日期：1996-05-01 00:00:00
abstract：:The early evolution of life is a period with many important events with a lot of big and open questions. One of them is the evolution of metabolic pathways, which means the origin and assembly of enzymes that act together. The retrograde hypothesis was the first attempt to explain the origin and evolutionary history o...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-021-09994-0
更新日期：2021-01-28 00:00:00
abstract：:Prediction of the thermodynamic behaviors of biomolecules at high temperature and pressure is fundamental to understanding the role of hydrothermal systems in the origin and evolution of life on the primitive Earth. However, available thermodynamic dataset for amino acids, essential components for life, cannot represe...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-014-9616-1
更新日期：2014-04-01 00:00:00
abstract：:One of the key problems in the study of ancient DNA is that of authenticating sequences obtained from PCR amplifications of highly degraded samples. Contamination of ancient samples and postmortem damage to endogenous DNA templates are the major obstacles facing researchers in this task. In particular, the authenticat...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/s00239-006-0259-8
更新日期：2007-07-01 00:00:00
abstract：:We have implemented a routine procedure for screening protein sequences for evidence of intragenic duplications. We tested 163 protein sequences representing 116 superfamilies of unrelated proteins. Twenty superfamilies contain proteins with internal gene duplications. The intragenic duplications detected can be divid...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF01734217
更新日期：1978-02-21 00:00:00
abstract：:Available molecular and biochemical data offer conflicting evidence for the origin of the cyanelle of Cyanophora paradoxa. We show that the similarity of cyanelle and green chloroplast sequences is probably a result of these two lineages independently developing the same pattern of directional nucleotide change (subst...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF00182392
更新日期：1992-02-01 00:00:00
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journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/BF00163228
更新日期：1995-03-01 00:00:00
abstract：:The frequencies of ATG triplets in the genomes of various species were systematically analyzed, and the frequency of ATG triplets was significantly low around start codons in both prokaryotic and eukaryotic genomes. In eukaryotes, however, the frequency decrease before the start codon is much more evident than that af...
journal_title：Journal of molecular evolution
pub_type： 杂志文章
doi：10.1007/pl00006460
更新日期：1999-02-01 00:00:00
