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The medaka draft genome and insights into vertebrate genome evolution
TLDR
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.
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The DNA sequence of human chromosome 21
TLDR
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.
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Role of TBX1 in human del22q11.2 syndrome
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Identification of eight members of the Argonaute family in the human genome.
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Genomic organization of the sex-determining and adjacent regions of the sex chromosomes of medaka.
TLDR
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.
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YAP is essential for tissue tension to ensure vertebrate 3D body shape
TLDR
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.
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The hotei mutation of medaka in the anti-Müllerian hormone receptor causes the dysregulation of germ cell and sexual development
TLDR
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.
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Nucleolar localization of DGCR8 and identification of eleven DGCR8-associated proteins.
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Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
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Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population
TLDR
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.
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