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Pseudoautosomal Region
The pseudoautosomal regions, PAR1, PAR2, are homologous sequences of nucleotides on the X and Y chromosomes. The pseudoautosomal regions get their name because any genes within them (so far at least 29 have been found for humans) are inherited just like any autosomal genes. PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 155 Mbp and 59 Mbp in total). PAR2 is at the tips of the long arms, spanning 320 kbp. Location The locations of the PARs within GRCh38 are: The locations of the PARs within GRCh37 are: Inheritance and function Normal male mammals have two copies of these genes: one in the pseudoautosomal region of their Y chromosome, the other in the corresponding portion of their X chromosome. Normal females also possess two copies of pseudoautosomal genes, as each of their two X chromosomes contains a pseudoautosomal region. Crossing over between the X and Y chromosomes is normally restricted to the pseudoa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
A Region In The Pseudoautosomal Region Of The Short Arms Of The X- And Y-chromosome
A, or a, is the first letter and the first vowel of the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''a'' (pronounced ), plural ''aes''. It is similar in shape to the Ancient Greek letter alpha, from which it derives. The uppercase version consists of the two slanting sides of a triangle, crossed in the middle by a horizontal bar. The lowercase version can be written in two forms: the double-storey a and single-storey ɑ. The latter is commonly used in handwriting and fonts based on it, especially fonts intended to be read by children, and is also found in italic type. In English grammar, " a", and its variant " an", are indefinite articles. History The earliest certain ancestor of "A" is aleph (also written 'aleph), the first letter of the Phoenician alphabet, which consisted entirely of consonants (for that reason, it is also called an abjad to distinguish it fro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CRLF2
Cytokine receptor-like factor 2 is a protein that in humans is encoded by the ''CRLF2'' gene. It forms a ternary signaling complex with TSLP and interleukin-7 receptor-α, capable of stimulating cell proliferation through activation of STAT3, STAT5 and JAK2 pathways and is implicated in the development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) (chromosome 14), or with P2Y purinoceptor 8 gene (P2RY8) (chromosome X or Y) is associated with B-progenitor- and Down syndrome- acute lymphoblastic leukemia (ALL). Cytokine signals are mediated through specific receptor complexes, the components of which are mostly members of the type I cytokine receptor family. Type I cytokine receptors share conserved structural features in their extracellular domain. Receptor complexes are typically heterodimeric, consisting of alpha chains, which provide ligand specificity, and beta (or gamma) chains, which are required for the formation of high- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mice
A mouse ( : mice) is a small rodent. Characteristically, mice are known to have a pointed snout, small rounded ears, a body-length scaly tail, and a high breeding rate. The best known mouse species is the common house mouse (''Mus musculus''). Mice are also popular as pets. In some places, certain kinds of field mice are locally common. They are known to invade homes for food and shelter. Mice are typically distinguished from rats by their size. Generally, when a muroid rodent is discovered, its common name includes the term ''mouse'' if it is smaller, or ''rat'' if it is larger. The common terms ''rat'' and ''mouse'' are not taxonomically specific. Typical mice are classified in the genus '' Mus'', but the term ''mouse'' is not confined to members of ''Mus'' and can also apply to species from other genera such as the deer mouse, ''Peromyscus''. Domestic mice sold as pets often differ substantially in size from the common house mouse. This is attributable to breeding a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ZBED1
Zinc finger BED domain-containing protein 1 is a protein that in humans is encoded by the ''ZBED1'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... ZBED1 regulates the expression of several genes involved in cell proliferation, color remodeling, protein metabolism, and other genes involved in cell proliferation and differentiation. References Further reading * * * * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xg Antigen System
The XG antigen is a red blood cell surface antigen discovered in 1962. by researchers at the MRC Blood Group Unit.Mann, J. D., Cahan, A., Gelb, A. G., Fisher, N., Hamper, J., Tippett, P., Sanger, R., Race, R. R A sex-linked blood group. Lancet. 1962;279:8. The PBDX gene that encodes the antigen is located on the short arm of the X chromosome. Since males normally have one X chromosome they are considered hemizygotes. Since women have two copies of the gene and could be heterozygotic for the presence or absence of the functioning gene they could (through the process of lyonisation) express the functioning protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ... on just some of their red blood cells. Frequency References Blood antigen systems {{cell-biology-stub Transf ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC25A6
ADP/ATP translocase 3, also known as solute carrier family 25 member 6, is a protein that in humans is encoded by the ''SLC25A6'' gene. Identical copies of this gene reside on the pseudoautosomal regions of the X and Y chromosomes. See also * Adenine nucleotide translocator Adenine nucleotide translocator (ANT), also known as the ADP/ATP translocase (ANT), ADP/ATP carrier protein (AAC) or mitochondrial ADP/ATP carrier, exchanges free ATP with free ADP across the inner mitochondrial membrane. ANT is the most abund ... * Solute carrier family References Further reading * * * * * * * * * * * * * * * * * * * * Solute carrier family {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SHOX
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). Pathology SHOX was first found during a search for the cause of short stature in women with Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome. Since its discovery, the gene has been found to play a role in idiopathic short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as triple X, XYY, Klinefelter, XXYY and similar syndromes. Genetics and function SHOX is composed of 6 different exons and is located in the pseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PPP2R3B
Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta is an enzyme that in humans is encoded by the ''PPP2R3B'' gene. Function Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PLCXD1
PI-PLC X domain-containing protein 1, also known as Phosphatidylinositol-specific phospholipase C, X domain containing 1, is an enzyme which in humans is encoded by the ''PLCXD1'' gene. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...s. References {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
P2RY8
P2Y purinoceptor 8 is a protein that in humans is encoded by the ''P2RY8'' gene. Function The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. Clinical relevance Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma Diffuse large B-cell lymphoma (DLBCL) is a cancer of B cells, a type of lymphocyte that is responsible for producing antibody, antibodies. It is the most common form of non-Hodgkin lymphoma among adults, with an annual Incidence (epidemiology), in .... See also * P2Y receptor References Further reading * * * G protein-coupled receptors {{transmembranereceptor-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IL3RA
Interleukin 3 receptor, alpha (low affinity) (IL3RA), also known as CD123 (Cluster of Differentiation 123), is a human gene. Function The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is composed of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. Interactions IL3RA has been shown to interact with Interleukin 3. See also * Cluster of differentiation The cluster of differentiation (also known as cluster of designati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
