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11614 Ensembl ENSG00000169297 ENSMUSG00000025056 UniProt P51843 Q61066 RefSeq (mRNA) NM_000475 NM_007430 RefSeq (protein) NP_000466 NP_000466.2 NP_031456 Location (UCSC) Chr X: 30.3 – 30.31 Mb Chr X: 85.24 – 85.24 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor ...
Gene dosage is the number of copies of a particular gene present in a genome. [1] Gene dosage is related to the amount of gene product (proteins or functional RNAs) the cell is able to express. Since a gene acts as a template, the number of templates in the cell contributes to the amount of gene product able to be produced.
Z-specific genes were over-expressed in males when compared to females, and a few genes had equal expression in both male and female Z chromosomes. [citation needed] In chickens, most of the dosage compensated genes exist on the Zp, or short, arm of the chromosome while the non-compensated genes are on the Zq, or long, arm of the chromosome.
An example of this is seen in the case of Williams syndrome, a neurodevelopmental disorder caused by the haploinsufficiency of genes at 7q11.23. The haploinsufficiency is caused by the copy-number variation (CNV) of 28 genes led by the deletion of ~1.6 Mb. These dosage-sensitive genes are vital for human language and constructive cognition. [2]
The SHOX gene in the PAR1 region is the gene most commonly associated with and well understood with regards to disorders in humans, [17] but all pseudoautosomal genes escape X-inactivation and are therefore candidates for having gene dosage effects in sex chromosome aneuploidy conditions (45,X, 47,XXX, 47,XXY, 47,XYY, etc.).
In genetics, DNase I hypersensitive sites (DHSs) are regions of chromatin that are sensitive to cleavage by the DNase I enzyme. In these specific regions of the genome, chromatin has lost its condensed structure, exposing the DNA and making it accessible. This raises the availability of DNA to degradation by enzymes, such as DNase I.
In humans, the SRY gene is located on short (p) arm of the Y chromosome at position 11.2. Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals (placentals and marsupials). [5]
The S antigen is relatively common (~55% of the population) and the s antigen is very common (~89% of the population). Anti-S and anti-s can cause hemolytic transfusion reactions and hemolytic disease of the newborn.The U antigen is a high incidence antigen, occurring in more than 99.9% of the population.