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GenomicsSupression of genetic recombination in the pseudoautosomal region and at subtelomeres in mice with a hypomorphic spo11 allele
Homologous recombination is the key process that generates genetic diversity and drives evolution. SPO11 protein triggers recombination by introducing DNA double stranded breaks at discreet areas of the genome called recombination hotspots. The hotspot locations are largely determined by the DNA bin...
ORGANISM(S): Mus musculus 
2013-09-11 | E-GEOD-48493 | biostudies-arrayexpress
ProteomicsA pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3. Instead, we found that dolichol synthesis requires a three-step detour involving additional metabolite...
ORGANISM(S): Homo sapiens (Human) 
2024-06-12 | PXD049174 | Pride
Lipid droplets Congenital disorders of glycosylation Polyprenal N-glycosylation Dolichal Pseudoautosomal region Dolichol Polyprenol 
TranscriptomicsThe SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome
Pseudoautosomal regions (PAR1 and PAR2) in eutherians retain homologous regions between the X and Y chromosomes that play a critical role in the obligatory X-Y crossover during male meiosis. Genes that reside in the PAR1 are exceptional in that they are rich in repetitive sequences and undergo a ve...
ORGANISM(S): Mus musculus 
2009-08-01 | E-GEOD-12454 | biostudies-arrayexpress
TranscriptomicsRearrangement of CRLF2 in B-progenitor and Down syndrome associated acute lymphoblastic leukemia
Chromosomal aneuploidy and translocations are hallmarks of acute lymphoblastic leukemia (ALL), but many patients lack a recurring chromosomal alteration. Here we report a recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes X and Y in B-progenitor ALL that results in the ex...
ORGANISM(S): Homo sapiens 
2009-10-18 | E-GEOD-16724 | biostudies-arrayexpress
UnknownRecombination in the human Pseudoautosomal region PAR1.
Not available
S-EPMC4102438 | biostudies-literature
UnknownWhere is the boundary of the human pseudoautosomal region?
Not available
S-EPMC11568759 | biostudies-literature
UnknownHuman Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region.
Not available
S-EPMC7608489 | biostudies-literature
UnknownA gene spans the pseudoautosomal boundary in mice.
Not available
S-EPMC23693 | biostudies-literature
TranscriptomicsTLR7 gene duplication accelerates autoimmunity and promotes nucleolar-specific B cells
Systemic autoimmune diseases such as lupus and scleroderma are characterized by the loss of tolerance to nuclear antigens, but the mechanisms by which specific autoantibodies are selected are unclear. Here we report that B cells containing the Y-linked autoimmune accelerator (Yaa) locus are intrins...
ORGANISM(S): Mus musculus 
2010-07-01 | E-GEOD-4445 | biostudies-arrayexpress
UnknownRecombination and nucleotide diversity in the sex chromosomal pseudoautosomal region of the emu, Dromaius novaehollandiae.
Not available
S-EPMC2734100 | biostudies-literature
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