X Chromosome Inactivation

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Growth and development of multicellular animals and plants Growth The permanent and irreversible increase in size that

occurs in organisms with time. Development Refers to the changes in shape, form and degree of complexity that accompany growth of the organism. Embryonic Development After fertilization the zygote passes on down the oviduct towards the uterus, and cell division commences as it is swept along. The first few divisions form a stage known as cleavage, and they eventually result in a solid ball of cells being formed. The embryo does not increase in mass during cleavage; by the time the uterus is reached the individual cells are no larger than the fertilized egg cell from which they were formed Stem cells are biological cells found in all multicellular organisms, that can divide (through mitosis) and differentiate into diverse specialized cell types and can self-renew to produce more stem cells. In mammals, there are two broad types of stem cells: Embryonic stem cells - which are isolated from the inner cell mass of blastocysts Adult stem cells - which are found in various tissues. Stem cell possesses two properties:

Self-renewal: the ability to go through numerous cycles of cell division while maintaining the undifferentiated state. Potency: the capacity to differentiate into specialized cell types.

Blastocyst A very early embryo that has the shape of a ball and consists of approximately 150-200 cells. It contains the inner cell mass, from which embryonic stem cells are derived, and an outer layer of cells called the trophoblast that forms the placenta. Differentiation The process of development with an increase in the level of organization or complexity of a cell or tissue, accompanied by a more specialized function. Embryo The early developing organism; this term denotes the period of development between the fertilized egg and the fetal stage. Embryonic stem cell Cells derived from very early in development, usually the inner cell mass of a developing blastocyst. These cells are self-renewing (can replicate themselves) and pluripotent (can form all cell types found in the body).

Induced pluripotent stem (iPS) cell Induced pluripotent cells (iPS cells) are stem cells that were engineered (induced) from non-pluripotent cells to become pluripotent. In other words, a cell with a specialized function (for example, a skin cell) that has been reprogrammed to an unspecialized state similar to that of an embryonic stem cell. Pluripotent stem cells Stem cells that can become all the cell types that are found in an implanted embryo, fetus or developed organism. Embryonic stem cells are pluripotent stem cells. Stem cells Cells that have both the capacity to self-renew (make more stem cells by cell division) and to differentiate into mature, specialized cells. Tissue-specific stem cells (also known as adult or somatic stem cells) Stem cells found in different tissues of the body that can give rise to some or all of the mature cell types found within the particular tissue or organ from which they came, i.e., blood stem cells can give rise to all the cells that make up the blood, but not the cells of organs such as the liver or brain. Totipotent stem cells Stem cells that, under the right conditions, are wholly capable of generating a viable embryo (including the placenta) and, for humans, exist until about four days after fertilization, prior to the blastocyst stage from which embryonic stem cells are derived. Multipotent stem cells Stem cells that can give rise to several different types of specialized cells, but in contrast to a pluripotent stem cell, are restricted to a certain organ or tissue types. For example, blood stem cells are multipotent cells that can produce all the different cell types that make up the blood but not the cells of other organs such as the liver or brain

Multiple alleles and polygenic traits Characteristics shown by organisms are due to genes. But only few characteristics depend on a single gene that has only two alternative alleles. Number of different genes interact together to express a single phenotypic feature.

Epistasis (Stand over) Epistasis is a phenomenon in which the expression of one gene depends on the presence of one or more "modifier genes." A gene whose phenotype is expressed is called epistatic, while one whose phenotype is altered or suppressed is called hypostatic. Note: dominance occurs between two allels of the same gene. Epistasis happens between two genes coding for quite separate phenotypic features, when one locus masks the expression of another Eg: inheritance of the coat colour of domestic cat Agouti Agouti gene present causes banding and is associated with tabby coat pattern of any colour. (AA or Aa) Agouti gene absent solid coat colour (aa) Tabby coat pattern Three alleles are responsible: T, TB, tb TT or Ttb - mackerel tabby coat pattern with vertical curving black stripes tbtb - blotched tabby coat with swirls of black TBT, TBTB or TBtb tickled or freckled appearence If at least one dominant agouti allele present none of the tabby patterns will show up and solid coat colour will form. X chromosome inactivation Unlike the gene-poor Y chromosome, the X chromosome contains over 1,000 genes that are essential for proper development and cell viability. However, females carry two copies of the X chromosome, resulting in a potentially toxic double dose of Xlinked genes. To correct this imbalance, mammalian females have evolved a unique mechanism of dosage compensation. In particular, by way of the process called X-chromosome inactivation (XCI), female mammals transcriptionally silence one of their two Xs in a complex and highly coordinated manner. The inactivated X chromosome then condenses into a compact structure called a Barr body, and it is stably maintained in a silent state. In embryonic cells x chromosome inactivation is random. But all the cells later descend from that cell will have the same inactivated x chromosome. Coat-color patterning of tortoiseshell or calico cats A prime example of X inactivation is in the coat-color patterning of tortoiseshell or calico cats. In cats, the fur pigmentation gene is X-linked; half of the x chromosome carry an allele for black fur and half for orange. Depending on which copy of the X chromosome each cell chooses to leave active, either an orange or black coat color results. X inactivation only occurs in cells with multiple X chromosomes, which explains why almost all calico cats are female.

The x chromosome that is inactivated is random so each tortoiseshell cat has a unique combination of orange and black patterns in the fur. The mixture of colours reflects the mosaic of cells with different x chromosome inactivation. X chromosome inactivation in humans Anhidrotic ectodermal dysplasia is a condition due to x chromosome inactivation in humans. Mutation in x chromosome makes a faulty x chromosome. In males : Faulty x chromosome make no teeth, body hair or sweat glands In females : Faulty x chromosome make random pattern of missing teeth and patches of the body with no sweat glands. Interaction between genes and environment Even though genotype influence on phenotype and the appearance environmental factors such as food competition effect on the phenotype of animals. Eg: impact of environment on Siamese cat The genotype of these animals should make them to have black fur all over the body. Black colour is due to melanin and the production process is catalyzed by tyrosinase enzyme But due to a mutation a another version of tyrosinase enzyme is formed. This enzyme is inactive in body temperature - denature Active - low temperatures As a result majority parts of the body is in pale Extremities are black as temperature is lower

Action of Lac operon

Lactose is broken down into galactose and glucose by enzyme beta galactosidase.

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