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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
The findings indicate that accumulation of proteins that have yet to be identified causes a selective neural cell death without formation of Lewy bodies, and should enhance the exploration of the molecular mechanisms of neurodegeneration in Parkinson disease as well as in other Neurodegenerative diseases that are characterized by involvement of abnormal protein ubiquitination.
Positional cloning of the APECED gene
Results indicate that this gene is responsible for the pathogenesis of APECED, a autosomal-recessive disorder that maps to human chromosome 21q22.3 and should facilitate the genetic diagnosis and potential treatment of the disease and enhance the general understanding of the mechanisms underlying autoimmune diseases.
DMY is a Y-specific DM-domain gene required for male development in the medaka fish
Rec recombinant breakpoint analysis is used to restrict the sex-determining region in medaka fish to a 530-kilobase stretch of the Y chromosome, and it is suggested that thesex-specific DMY is required for testicular development and is a prime candidate for the medaka sex-Determining gene.
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.
Genome sequence of the ultrasmall unicellular red alga Cyanidioschyzon merolae 10D
The results indicate that the C. merolae genome provides a model system with a simple gene composition for studying the origin, evolution and fundamental mechanisms of eukaryotic cells.
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.
A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes
It is found that in the fish medaka the Y chromosome-specific region spans only about 280 kb and contains a duplicated copy of the autosomal DMRT1 gene, named D MRT1Y, which is the only functional gene in this chromosome segment and maps precisely to the male sex-determining locus.
Role of TBX1 in human del22q11.2 syndrome
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.