N. Saitou's research while affiliated with National Institute of Genetics and other places

Publications (156)

Article
Very little is known about the genes and mechanisms affecting skin lightening in Asian populations. In this study, two coding SNPs, c.G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from various area...
Article
The membrane-associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations. In this study more detailed distribution of the F374 allele was investigated in 1649 unrelated subjects from 13 Eurasia...
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The family of genes encoding T-cell immunoglobulin and mucin-domain containing proteins (Tim), which are cell-surface molecules expressed in CD4(+) T helper cells, has important roles in the immune system. Here, we report three unusual patterns of genetic variation in the human hepatitis A virus cellular receptor 1 gene (HAVCR1) that are similar to...
Article
The phylogenetic relationship of human and apes are reviewed. The history of molecular phylogenetic studies in this field is then discussed, as is the role of natural selection at the molecular level. It is argued that approximately 10,000 genetic changes are responsible for creating human specific phenotypes. A genome-wide comparison is necessary...
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Chromosome rearrangement has been considered to be important in the evolutionary process. Here, we demonstrate the evolutionary relationship of the rearranged human chromosome 12 and the corresponding chromosome XII in apes (chimpanzee, bonobo, gorilla, orangutan, and gibbon) by examining PCR products derived from the breakpoints of inversions and...
Article
BACKGROUND: To date, at least 40 different alleles O have been characterized on the basis of exon 6 and exon 7 sequences but not always for intron 6. STUDY DESIGN AND METHODS: Among 415 individuals, from four continents (Africa, Europe, South America, and Asia), studied for exon 6 and exon 7 sequences, we selected 46 individuals (of respective phen...
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Human–chimpanzee comparative genome research is essential for narrowing down genetic changes involved in the acquisition of unique human features, such as highly developed cognitive functions, bipedalism or the use of complex language. Here, we report the high-quality DNA sequence of 33.3 megabases of chimpanzee chromosome 22. By comparing the whol...
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We sequenced exon 2 of the major histocompatibility complex (MHC) class II DRB3 gene from 471 individuals in four different Japanese populations of cattle (201 Japanese Black, 101 Holstein, 100 Japanese Shorthorn, and 69 Jersey cattle) using a new method for sequence-based typing (SBT). We identified the 34 previously reported alleles and four nove...
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Excerpt Homo sapiens is a unique organism characterized by itshighly developed brain, use of complex languages,bipedal locomotion, and so on. These unique featureshave been acquired by a series of mutation and selectionevents during evolution in the human lineage and aremainly determined by genetic factors encoded in the human genome. It is of grea...
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Spinocerebellar Ataxia 8 (SCA8) is a neurodegenerative disorder caused by expansion of a trinucleotide repeat. We undertake a comparative genetic analysis among human populations and primate species in the normal variation range, where forces that shaped present diversity can be recognised. We determinate number of repeats of the short tandem repea...
Article
IntroductionReconstructing evolutionary history of a group of species is a major task in biological study. Manymethods exist for reconstructing such history, or phylogeny, but most of them are based on an assumptionthat evolution of given gene family can be represented as a tree. However some families ofgenes may have alternative historical structu...
Article
Ancient DNA technique is a very powerful tool for the studies on past human populations. However, in most cases ancient DNA is extremely degraded into short fragments, and the information is limited because of the damaged state. A large-scale data analysis for human mitochondrial DNA (mtDNA) was carried out to assess validity of the short nucleotid...
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The DNA Data Bank of Japan (DDBJ, http://www.ddbj.nig.ac.jp) has made an effort to collect as much data as possible mainly from Japanese researchers. The increase rates of the data we collected, annotated and released to the public in the past year are 43% for the number of entries and 52% for the number of bases. The increase rates are accelerated...
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We determined nucleotide sequences of the 16S rRNA gene of mitochondrial DNA (mtDNA) (about 1.6 kb) for 35 chimpanzee, 13 bonobo, 10 gorilla, 16 orangutan, and 23 gibbon individuals. We compared those data with published sequences and estimated nucleotide diversity for each species. All the ape species showed higher diversity than human. We also co...
Article
Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 samples (40 chromosomes), and haploty...
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The human and nonhuman primate ABO blood group gene shows relatively large numbers of nucleotide differences around the exon 7 region. In this study we determined intron 6 sequences for 9 alleles of common chimpanzee and for 3 alleles of bonobo to estimate nucleotide diversities among them. Sequence length polymorphisms are observed in this region...
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Muscle tissues can be divided into six classes; smooth, fast skeletal, slow skeletal and cardiac muscle tissues for vertebrates, and striated and smooth muscle tissues for invertebrates. We reconstructed phylogenetic trees of six protein genes that are expressed in muscle tissues and, using a newly developed program, inferred the phylogeny of muscl...

Citations

... This enormous diversity is driven by the ability of microbes to perform lateral gene transfer across disparate phylogenetic groups (McDonald and Currie, 2017). Moreover, microbial communities are built on high numbers of individuals for each species (Robbins et al., 2016), that can quickly proliferate and have high mutation rates (in the range of 10 ?4 in E. coli) ( Kibota and Lynch, 1996;Boe et al., 2000;Denamur and Matic, 2006) as compared to higher organisms like humans [10 ?8 ] ( Kuroki et al., 2006;Xue et al., 2015). These characteristics increase the diversification of microbes and microbial communities, where individual microbes of the same species could potentially bear different genetic endowments and thus functional characteristics. ...
... Some researchers may use the term to designate a population in a particular or a variety of regions, including Eastern Asia, Southeast Asia or indigenous peoples in North America [12]. For others, it refers only to East Asians, or may be a synonym for the more generic Asian [13,14]. Moreover, the term has, in the past, been used to refer to individuals with Down's syndrome. ...
... These epidemiological studies suggest that the amplicons harbor genes essential for the progression of germ cells to haploid stages and that the copy number of these genes has functional consequences. The sequencing of a Western Chimpanzee (Pan troglodyte verus) Y revealed gross structural differences with the human sequence, specifically in the amplicon regions (Kuroki, et al. 2006). The chimpanzee amplicon region is richer in content, in terms of the number unique families and copy number of members. ...
... The earliest RMS catalogues derive from studies of human TE insertions lacking a chimpanzee ortholog [29][30][31][32]. This approach is useful in identifying TE subfamilies that generated human-specific insertions over the last6 million years. ...
... Some genetic as well as phenotypic traits may have alternative historical structure caused by migration, genetic drift, and hybridization, which makes it difficult to represent population history as a tree. Such population history resulted from complex events requires Dodo (1974) not a simple tree but network for more accurate representation (Bandelt and Dress, 1992;Huson, 1998;Huson and Bryant 2006;Kryukov and Saitou, 2003). In contrast to the standard tree methods such as cluster analysis and neighbor joining method that does not necessarily express interpopulation relationships included in the original distance matrix in an accurate fashion, split decomposition is a transformation-based approach (Huson, 1998;Huson and Bryant, 2005). ...
... First, it is indels but not substitutions that yield the skeletons (or the gap configurations) of the sequence alignments (reviewed, e.g., in [7]), which provide essential inputs to most homology-based analyses in computational biology. And second, some recent comparative genomic analyses have revealed that indels account for more base differences between the genomes of closely related species than substitutions (e.g., [8][9][10][11][12]). These circumstances make it imperative to develop a stochastic model that enables us to reliably calculate the probability of sequence evolution via mutations including insertions and deletions. ...
... Phylogenetic trees have been made using motor proteins like myosin, kinesin, and dynein to figure out how Arthropods are related (Ronitz et al., 2009) another muscle proteins like acting (Mounier & Sparrow, 1993). MRF families have been generally used in phylogenetic studies of dissimilar insect groups (Oota & Saitou, 1999). The great diversity proposes that studying of invertebrate muscle proteins and genes can be tried to resolve phylogenetic relationship and evolution (Hooper & Thuma, 2005: Ohta, 1991. ...
... Evolutionary analysis of nucleotide sequences of this gene for great apes and Old World monkeys (Kominato et al., 1992; Martinko et al., 1993) as well as those for human suggested that this gene is under some kind of positive selection (Saitou and Yamamoto, 1997). Further sequence analyses of this gene for great apes and Old World monkeys confirmed the unique feature of this gene (O'hUigin et al., 1997; Kermarrec et al., 1999; Kitano et al., 2000; Noda et al., 2000; Sumiyama et al., 2000). Lesser apes (gibbons) are also known to be polymorphic at the ABO blood group gene from serological studies (Blancher and Socha, 1997), however, no study was so far conducted at nucleotide sequence level. ...
... It contains 24% b-pleated sheet, 29% a-helix and 26% reverse turns. [13] The B chain consists of 27 amino acid residues, and these amino acid residues are distributed unequally into the neutral and charged portion. [14] Clinical context of fetuin-A Fetuin-A or a2-Heremans-Schmid glycoprotein (AHSG) of plasma is associated with impaired glucose tolerance, fatty liver, metabolic syndrome and an atherogenic lipid profile. ...