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What is a chromosome? In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes.

Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes are not visible in the cells nucleusnot even under a microscope when the cell is not dividing.

However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division. Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or arms. The short arm of the chromosome is labeled the p arm. The long arm of the chromosome is labeled the q arm. The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes.

What is mitochondrial DNA? Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA. In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function. Thirteen of these genes provide instructions for making enzymes involved in oxidative phosphorylation. Oxidative phosphorylation is a process that uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The remaining genes provide instructions for making molecules called transfer RNA (tRNA) and ribosomal RNA (rRNA), which are chemical cousins of DNA. These types of RNA help assemble protein building blocks (amino acids) into functioning proteins. Mitochondrial genes are among the estimated 20,000 to 25,000 total genes in the human genome.

Not all genetic information is found in nuclear DNA. Both plants and animals have an organellea "little organ" within the cell called the mitochondrion. Each mitochondrion has its own set of genes. Plants also have a second organelle, the chloroplast, which also has its own DNA. Cells often have multiple mitochondria, particularly cells requiring lots of energy, such as active muscle cells. This is because mitochondria are responsible for converting the energy stored in macromolecules into a form usable by the cell, namely, the adenosine triphosphate (ATP) molecule. Thus, they are often referred to as the power generators of the cell. Unlike nuclear DNA (the DNA found within the nucleus of a cell), half of which comes from our mother and half from our father, mitochondrial DNA is only inherited from our mother. This is because mitochondria are only found in the female gametes or "eggs" of sexually reproducing animals, not in the male gamete, or sperm. Mitochondrial DNA also does not recombine; there is no shuffling of genes from one generation to the other, as there is with nuclear genes. Note: Large numbers of mitochondria are found in the tail of sperm, providing them with an engine that generates the energy needed for swimming toward the egg. However, when the sperm enters the egg during fertilization, the tail falls off, taking away the father's mitochondria. MT-ATP6 MT-ND1 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-TH MT-TK MT-TL1 MT-TS1 MT-TV

Why Is There a Separate Mitochondrial Genome? The energy-conversion process that takes place in the mitochondria takes place aerobically, in the presence of oxygen. Other energy conversion processes in the cell take place anaerobically, or without oxygen. The independent aerobic function of these organelles is thought to have evolved from bacteria that lived inside of other simple organisms in a mutually beneficial, or symbiotic, relationship, providing them with aerobic capacity. Through the process of evolution, these tiny organisms became incorporated into the cell, and their genetic systems and cellular functions became integrated to form a single functioning cellular unit. Because mitochondria have their own DNA, RNA, and ribosomes, this scenario is quite possible. This theory is also supported by the existence of a eukaryotic organism, called the amoeba, which lacks mitochondria. Therefore, amoeba must always have a symbiotic relationship with an aerobic bacterium.

Why Study Mitochondria? There are many diseases caused by mutations in mitochondrial DNA (mtDNA). Because the mitochondria produce energy in cells, symptoms of mitochondrial diseases often involve degeneration or functional failure of tissue. For example, mtDNA mutations have been identified in some forms of diabetes, deafness, and certain inherited heart diseases. In addition, mutations in mtDNA are able to accumulate throughout an individual's lifetime. This is different from mutations in nuclear DNA, which has sophisticated repair mechanisms to limit the accumulation of mutations. Mitochondrial DNA mutations can also concentrate in the mitochondria of specific tissues. A variety of deadly diseases are attributable to a large number of accumulated mutations in mitochondria. There is even a theory, the Mitochondrial Theory of Aging, that suggests that accumulation of mutations in mitochondria contributes to, or drives, the aging process. These defects are associated with Parkinson's and Alzheimer's disease, although it is not known whether the defects actually cause or are a direct result of the diseases. However, evidence suggests that the mutations contribute to the progression of both diseases. In addition to the critical cellular energy-related functions, mitochondrial genes are useful to evolutionary biologists because of their maternal inheritance and high rate of mutation. By studying patterns of mutations, scientists are able to reconstruct patterns of migration and evolution within and between species. For example, mtDNA analysis has been used to trace the migration of people from Asia across the Bering Strait to North and South America. It has also been used to identify an ancient maternal lineage from which modern man evolved.

An autosome is a chromosome that is not an allosome (i.e., not a sex chromosome).[1] Autosomes appear in pairs whose members have the same form but which differ from other pairs in adiploid cell, whereas members of an allosome pair may differ from one another and thereby determine sex. For example, in humans there are typically 22 pairs of autosomes and one allosome pair. The allosome pair consists of two X chromosomes (female) or one X and one Y chromosome (male). (Atypically XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other allosome combinations, are known to occur. These generally cause developmental abnormalities.) The autosome pairs are labeled with numbers (1-22 in humans), and allosomes are labeled with their letters. An allosome is a sex chromosome that differs from an ordinary autosome in form, size, or behavior. The human sex chromosomes are a typical pair of allosomes. The X chromosome is present in the ovum, while either X or Y chromosomes can be present in sperm. The chromosomes which determine the sex (maleness or femaleness) of an individual in sexually producing organisms are called sex chromosomes or allosomes or idiosomes. For example in human beings an individual is female if its cells contain XX chromosomes (homo or isogametic) and male if its cells contains XY chromosomes (hetrogametic). [edit]See also

In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes are not visible in the cells nucleusnot even under a microscopewhen the cell is not dividing. However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division.

Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or arms. The short arm of the chromosome is labeled the p arm. The long arm of the chromosome is labeled the q arm. The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes.

Typically, eukaryotic cells (cells with nuclei) have large linear chromosomes and prokaryotic cells (cells without defined nuclei) have smaller circular chromosomes, although there are many exceptions to this rule. Also, cells may contain more than one type of chromosome; for example, mitochondria in most eukaryotes and chloroplasts in plants have their own small chromosomes.

Chromatin is the combination of DNA and proteins that make up the contents of the nucleus of a cell. The primary functions of chromatin are: to package DNA into a smaller volume to fit in the cell, to strengthen the DNA to allow mitosis and meiosis and prevent DNA damage, and to control gene expression and DNA replication. The primary protein components of chromatin arehistones that compact the DNA. Chromatin is only found in eukaryotic cells: prokaryotic cells have a very different organization of their DNA which is referred to as a genophore (a chromosome without chromatin). In general terms, there are three levels of chromatin organization: DNA wraps around histone proteins forming nucleosomes; the "beads on a string" structure (euchromatin). Multiple histones wrap into a 30 nm fibre consisting of nucleosome arrays in their most compact form (heterochromatin). Higher-level DNA packaging of the 30 nm fibre into the metaphase chromosome (during mitosis and meiosis).

Chromatin Main article: Chromatin Chromatin is the complex of DNA and protein found in the eukaryotic nucleus, which packages chromosomes. The structure of chromatin varies significantly between different stages of the cell cycle, according to the requirements of the DNA. Interphase chromatin During interphase (the period of the cell cycle where the cell is not dividing), two types of chromatin can be distinguished: Euchromatin, which consists of DNA that is active, e.g., being expressed as protein. Heterochromatin, which consists of mostly inactive DNA. It seems to serve structural purposes during the chromosomal stages. Heterochromatin can be further distinguished into two types: Constitutive heterochromatin, which is never expressed. It is located around the centromere and usually contains repetitive sequences. Facultative heterochromatin, which is sometimes expressed.

In a DNA molecule, the two strands are not parallel, but intertwined with each other. Each strand looks like a helix. The two strands form a "double helix" structure, which was first discovered byJames D. Watson and Francis Crick in 1953. In this structure, also known as the B form, the helix makes a turn every 3.4 nm, and the distance between two neighboring base pairs is 0.34 nm. Hence, there are about 10 pairs per turn. The intertwined strands make two grooves of different widths, referred to as the major groove and the minor groove, which may facilitate binding with specific proteins.

In a solution with higher salt concentrations or with alcohol added, the DNA structure may change to an A form, which is still right-handed, but every 2.3 nm makes a turn and there are 11 base pairs per turn.

Another DNA structure is called the Z form, because its bases seem to zigzag. Z DNA is left-handed. One turn spans 4.6 nm, comprising 12 base pairs. The DNA molecule with alternating G-C sequences in alcohol or high salt solution tends to have such

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