Human sex chromosome mutation

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HHMI is a science philanthropy whose mission is to advance basic biomedical research and science education for the benefit of humanity. HHMI empowers exceptional scientists and students to pursue fundamental questions in basic science. Genetic sequencing and analysis reveals smaller than expected difference in mutation rates of the X and Y chromosomes.

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Sex chromosome abnormalities occur as a result of chromosome mutations brought on by mutagens like radiation or problems that occur during meiosis. One type of mutation is caused by chromosome breakage. The broken chromosome fragment may be deleted, duplicated, inverted, or translocated to a non- homologous chromosome.

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Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. Chromosomes are structures within cells that contain DNA and many genes. A gene is a segment of deoxyribonucleic acid DNA and contains the code for a specific protein that functions in one or more types of cells in the body see Genes and Chromosomes for a discussion about genetics. Genes contain instructions that determine how the body is supposed to function.

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In the first evolutionary study of the chromosome associated with being female, University of California, Berkeley, biologist Doris Bachtrog and her colleagues show that the history of the X chromosome is every bit as interesting as the much-studied, male-determining Y chromosome, and offers important clues to the origins and benefits of sexual reproduction. Not all animals and plants employ genes to determine if an embryo becomes male or female. Many reptiles, for example, rely on environmental cues such as temperature to specify male or female.

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In addition, the African samples show more variability in their mtDNA than do those of other continents,…. Females have two copies of the X chromosome, but males have an X and a Y chromosome. Because males have only one copy of the X chromosome, any mutation occurring in a gene on this chromosome will be expressed in male offspring regardless….

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Disorders of the sex chromosome like disorders of the autosomes can be either numerical or structural, and can be present in all cells or in a mosaic form. Clinical indications that should raise suspicions of a sex chromosome abnormality are:. These disorders are considered very common with incidence of about —

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The Y chromosome is one of two sex chromosomes. Humans and other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells.

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Stronger focus on nutrition within health services could save 3. Humans are born with 46 chromosomes in 23 pairs. Most women are 46XX and most men are 46XY.

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Many separate-sexed organisms have sex chromosomes controlling sex determination. Sex chromosomes often have reduced recombination, specialized frequently sex-specific gene content, dosage compensation and heteromorphic size. Research on sex determination and sex chromosome evolution has increased over the past decade and is today a very active field. However, some areas within the field have not received as much attention as others.

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