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The medaka draft genome and insights into vertebrate genome evolution
A high-quality draft genome sequence of a small egg-laying freshwater teleost, medaka, revealed that eight major interchromosomal rearrangements took place in a remarkably short period of ∼50 Myr after the whole-genome duplication event in the teleost ancestor and afterwards, intriguingly, the medaka genome preserved its ancestral karyotype for more than 300‬Myr. Expand
The DNA sequence of human chromosome 21
The sequence and gene catalogue of the long arm of chromosome 21, the smallest human autosome, is reported, and structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Expand
Role of TBX1 in human del22q11.2 syndrome
The results suggest that the TBX1 mutation is responsible for five major phenotypes in del22q11.2 syndrome, and conclude thatTBX1 is a major genetic determinant of the del22Q11. Expand
Identification of eight members of the Argonaute family in the human genome.
It is postulate that at least some members of the human Argonaute family may be involved in the development and maintenance of stem cells through the RNA-mediated gene-quelling mechanisms associated with DICER. Expand
A physical map of the human genome
  • John D. Marco LaDeana Robert H. Asif John Mandeep Krist McPherson Marra Hillier Waterston Chinwalla Wallis, John D. Marco LaDeana Robert H. Asif John Mandeep Krist McPherson Marra Hillier Waterston Chinwalla Wallis, +130 authors H. Lehrach
  • Biology, Medicine
  • Nature
  • 15 February 2001
The construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions are reported. Expand
Genomic organization of the sex-determining and adjacent regions of the sex chromosomes of medaka.
Interestingly the non-recombining part of the Y did not spread out considerably from the original duplicated fragment, possibly because of a large sequence duplication bordering the Y-specific fragment, and provides insights into some of the initial processes of Y chromosome evolution. Expand
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population
The findings advance the understanding of the genetic basis of atopic dermatitis and replicate the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals. Expand
YAP is essential for tissue tension to ensure vertebrate 3D body shape
A unique medaka fish mutant, hirame, is reported, which is sensitive to deformation by gravity, and shows that actomyosin-mediated tissue tension is reduced in hir embryos, leading to tissue flattening and tissue misalignment, both of which contribute to body flattening. Expand
The hotei mutation of medaka in the anti-Müllerian hormone receptor causes the dysregulation of germ cell and sexual development
The phenotypes of the hot homozygotes indicate that there are multiple regulatory functions of the AMH/AMHRII signaling system in the development of the gonad, including the sex-dependent regulation of germ cell proliferation and follicular development. Expand
Nucleolar localization of DGCR8 and identification of eleven DGCR8-associated proteins.
Subcellular localization analysis by the immunofluorescent microscopy and immunoelectron microscopy indicated that DGCR8 locates at the nucleolus and small foci adjacent to splicing speckles in the nucleoplasm. Expand