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Acytosiosis
Acytosiosis is a rare genetic disorder. Symptoms and signs Because of the complete lack of cytosine due to the defective Alpha-cytosinase, DNA replication cannot occur. This means that any zygote with Acytosiosis will be unable to divide into multiple cells and will thus die. In most cases, the mother won't even know that she would have had a baby if it hadn't died from Acytosiosis. Causes Acytosiosis is caused by an autosomal recessive mutation on Chromosome 9, which causes a defect in the enzyme Alpha-cytosinase.Wynbrandt, James and Ludman, Mark ''The Encyclopedia of Genetic Disorders and Birth Defects'' (Facts on File 2000) Diagnosis Treatment Etymology The name "Acytosiosis" comes from a combination of the prefix "a-", meaning "no" or "none", "cytosine", and the suffix In linguistics, a suffix is an affix which is placed after the stem of a word. Common examples are case endings, which indicate the grammatical case of nouns and adjectives, and verb endings, which form ...
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Chromosome 9
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and 4.5% of the total DNA in cells. Genes Number of genes These are some of the gene count estimates of human chromosome 9. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. Diseases and disorders The follow ...
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Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ...
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Cytosine
Cytosine () (symbol C or Cyt) is one of the four nucleotide bases found in DNA and RNA, along with adenine, guanine, and thymine ( uracil in RNA). It is a pyrimidine derivative, with a heterocyclic aromatic ring and two substituents attached (an amine group at position 4 and a keto group at position 2). The nucleoside of cytosine is cytidine. In Watson–Crick base pairing, it forms three hydrogen bonds with guanine. History Cytosine was discovered and named by Albrecht Kossel and Albert Neumann in 1894 when it was hydrolyzed from calf thymus tissues. A structure was proposed in 1903, and was synthesized (and thus confirmed) in the laboratory in the same year. In 1998, cytosine was used in an early demonstration of quantum information processing when Oxford University researchers implemented the Deutsch–Jozsa algorithm on a two qubit nuclear magnetic resonance quantum computer (NMRQC). In March 2015, NASA scientists reported the formation of cytosine, alon ...
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DNA Replication
In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all life, living organisms, acting as the most essential part of heredity, biological inheritance. This is essential for cell division during growth and repair of damaged tissues, while it also ensures that each of the new cells receives its own copy of the DNA. The cell possesses the distinctive property of division, which makes replication of DNA essential. DNA is made up of a nucleic acid double helix, double helix of two Complementary DNA, complementary DNA strand, strands. DNA is often called double helix. The double helix describes the appearance of a double-stranded DNA which is composed of two linear strands that run opposite to each other and twist together. During replication, these strands are separated. Each strand of the original DNA molecule then serves as a template for the production of its counterpart, ...
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Zygote
A zygote (; , ) is a eukaryote, eukaryotic cell (biology), cell formed by a fertilization event between two gametes. The zygote's genome is a combination of the DNA in each gamete, and contains all of the genetic information of a new individual organism. The sexual fusion of haploid cells is called karyogamy, the result of which is the formation of a Ploidy#Haploid and monoploid, diploid cell called the zygote or zygospore. History German zoologists Oscar Hertwig, Oscar and Richard Hertwig made some of the first discoveries on animal zygote formation in the late 19th century. In multicellular organisms The zygote is the earliest developmental stage. In humans and most other Anisogamy, anisogamous organisms, a zygote is formed when an egg cell and sperm, sperm cell come together to create a new unique organism. The formation of a cell potency, totipotent zygote with the potential to produce a whole organism depends on epigenetics, epigenetic reprogramming. DNA demethyla ...
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Autosomal
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 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 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 XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chrom ...
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Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incompl ...
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Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ...
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Prefix
A prefix is an affix which is placed before the stem of a word. Particularly in the study of languages, a prefix is also called a preformative, because it alters the form of the word to which it is affixed. Prefixes, like other affixes, can be either inflectional, creating a new form of a word with the same basic meaning and same lexical category, or derivational, creating a new word with a new semantic meaning and sometimes also a different lexical category. Prefixes, like all affixes, are usually bound morphemes. English has no inflectional prefixes, using only suffixes for that purpose. Adding a prefix to the beginning of an English word changes it to a different word. For example, when the prefix ''un-'' is added to the word ''happy'', it creates the word ''unhappy''. The word ''prefix'' is itself made up of the stem ''fix'' (meaning "attach", in this case), and the prefix ''pre-'' (meaning "before"), both of which are derived from Latin roots. English language ...
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Suffix
In linguistics, a suffix is an affix which is placed after the stem of a word. Common examples are case endings, which indicate the grammatical case of nouns and adjectives, and verb endings, which form the conjugation of verbs. Suffixes can carry grammatical information (inflectional endings) or lexical information ( derivational/lexical suffixes)''.'' Inflection changes the grammatical properties of a word within its syntactic category. Derivational suffixes fall into two categories: class-changing derivation and class-maintaining derivation. Particularly in the study of Semitic languages, suffixes are called affirmatives, as they can alter the form of the words. In Indo-European studies, a distinction is made between suffixes and endings (see Proto-Indo-European root). A word-final segment that is somewhere between a free morpheme and a bound morpheme is known as a suffixoidKremer, Marion. 1997. ''Person reference and gender in translation: a contrastive investigation of ...
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