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Pseudoautosomal Region
The pseudoautosomal regions or PARs are Homology (biology), homologous sequences of Nucleotide, nucleotides found within the Sex chromosome, sex chromosomes of species with an XY sex-determination system, XY or ZW sex-determination system, ZW mechanism of Sex-determination system, sex determination. 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. In humans, these regions are referred to as PAR1 and PAR2. 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 154 Mbp and 62 Mbp in total). PAR2 is at the tips of the long arms, spanning 320 kbp. The Monotreme, monotremes, including the platypus and echidna, have a multiple sex chromosome system, and consequently have 8 pseudoautosomal regions. Location The locations of the PARs within Genome Reference Consortium, GRCh38 are: The locations of the PARs within GR ... [...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 (alphabet), letter and the first vowel letter of the Latin alphabet, used in the modern English alphabet, and others worldwide. Its name in English is ''English alphabet#Letter names, 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 is often written in one of two forms: the double-storey and single-storey . 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, ''English articles, a'' is the indefinite article, with the alternative form ''an''. Name In English, the name of the letter is the ''long A'' sound, pronounced . Its name in most other languages matches the letter's pronunciation in open syllables. History The earliest know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosomal Crossover
Chromosomal crossover, or crossing over, is the exchange of genetic material during sexual reproduction between two homologous chromosomes' sister chromatids, non-sister chromatids that results in recombinant chromosomes. It is one of the final phases of genetic recombination, which occurs in the ''pachytene'' stage of prophase I of meiosis during a process called synapsis. Synapsis is usually initiated before the synaptonemal complex develops and is not completed until near the end of prophase I. Crossover usually occurs when matching regions on matching chromosomes break and then reconnect to the other chromosome, resulting in Chiasma (genetics), chiasma which are the visible evidence of crossing over. History of discovery Crossing over was described, in theory, by Thomas Hunt Morgan; the term crossover was coined by Morgan and Eleth Cattell. Hunt relied on the discovery of Frans Alfons Janssens who described the phenomenon in 1909 and had called it "chiasmatypie". Th ... [...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. See also * P2Y receptor P2Y receptors are a family of purinergic G protein-coupled receptors, stimulated by nucleotides such as adenosine triphosphate, adenosine diphosphate, uridine triphosphate, uridine diphosphate and UDP-glucose.To date, 8 P2Y receptors have been ... 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 desi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GTPBP6
GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal ''GTPBP6'' gene. Clinical significance Overexpression of GTPBP6 as a result of Klinefelter's syndrome Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often not ... (one or more extra X-chromosomes) is inversely correlated with verbal ability. References Further reading * * * {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DHRSX
Dehydrogenase/reductase (SDR family) X-linked also known as DHRSX is an enzyme which in humans is encoded by the pseudoautosomal ''DHRSX'' gene. DHRSX is a member of the short-chain dehydrogenase family of oxidoreductase enzymes. DHRSX is required for two steps in the biosynthesis of dolichol: i) the NAD+-dependent conversion of polyprenol to its aldehyde analogue, polyprenal; ii) the NADPH-dependent reduction of dolichal to dolichol. Dolichol is a long polyisoprenoid lipid required as the carrier of mono- and oligosaccharides in the processes of N-glycosylation ''N''-linked glycosylation is the attachment of an oligosaccharide, a carbohydrate consisting of several sugar molecules, sometimes also referred to as glycan, to a nitrogen atom (the amide nitrogen of an asparagine (Asn) residue of a protein), i ..., C-/O-mannosylation and the formation of glycosylphosphatidylinositol (GPI) anchors. References Further reading * * * {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CSF2RA
The granulocyte-macrophage colony-stimulating factor receptor, also known as CD116 (Cluster of Differentiation 116), is a receptor for granulocyte-macrophage colony-stimulating factor, which stimulates the production of white blood cells. In contrast to M-CSF and G-CSF which are lineage specific, GM-CSF and its receptor play a role in earlier stages of development. The receptor is primarily located on neutrophils, eosinophils and monocytes/macrophages, it is also on CD34+ progenitor cells (myeloblasts) and precursors for erythroid and megakaryocytic lineages, but only in the beginning of their development. It is associated with Surfactant metabolism dysfunction type 4. Structure The granulocyte-macrophage colony-stimulating factor receptor is a heterodimer composed of at least two different subunits; an α chain, and a β chain which is also present in the receptors for IL-3 and IL-5. The α subunit contains a binding site for granulocyte macrophage colony-stimulating fact ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CRLF2
Cytokine receptor-like factor 2 (also known as TSLP receptor, TSLP-R) 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 sensory receptor, 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CD99
CD99 antigen (Cluster of differentiation 99), also known as MIC2 or single-chain type-1 glycoprotein, is a heavily O-glycosylated transmembrane protein that is encoded by the ''CD99'' gene in humans. The protein has a mass of 32 kD. Unusually for a gene present on the X chromosome, the CD99 gene does not undergo X inactivation, and it was the first such pseudoautosomal gene to be discovered in humans. Expression It is expressed on all leukocytes but highest on thymocytes and is believed to augment T-cell adhesion and apoptosis of double positive T cells. It has been found in endothelial cells and in the periodontium, including gingival fibroblasts and gingival epithelial cells. It also participates in migration and activation. There is also experimental evidence that it binds to cyclophilin A. It is found on the cell surface of Ewing's sarcoma tumors and is positive in granulosa cell tumors. It is more expressed in malignant gliomas than in the brain, and such overexpressio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ASMTL
N-acetylserotonin O-methyltransferase-like protein is an enzyme that in humans is encoded by the ''ASMTL'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... References Further reading * * * * External links * {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ASMT
N-Acetylserotonin O-methyltransferase, also known as ASMT, is an enzyme which catalyzes the final reaction in melatonin biosynthesis: converting Normelatonin to melatonin. This reaction is embedded in the more general tryptophan metabolism pathway. The enzyme also catalyzes a second reaction in tryptophan metabolism: the conversion of 5-hydroxy-indoleacetate to 5-methoxy-indoleacetate. The other enzyme which catalyzes this reaction is n-acetylserotonin-o-methyltransferase-like-protein. In humans the ASMT enzyme is encoded by the pseudoautosomal ''ASMT'' gene. A copy exists near the endcaps of the short arms of both the X chromosome and the Y chromosome. Structure and gene location ''N-Acetylserotonin O-methyltransferase'' is an enzyme that is coded for by genes located on the pseudoautosomal region of the X and Y chromosome, and is most abundantly found in the pineal gland and retina of humans. The structure of ''N- Acetylserotonin O-methyltransferase'' has been determined by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
