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’.
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.
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.
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.
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.
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 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.
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.
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.