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Chromosomes 18, 19, and Y. By Daniel Borders. Chromosome Diagrams. Chromosome 18. Chromosome 19. Y Chromosome. Chromosome 18. Represents approximately 2.7% of total DNA in cells Believed that some genes on this chromosome can disrupt the course of normal development
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Chromosomes 18, 19, and Y By Daniel Borders
Chromosome Diagrams Chromosome 18 Chromosome 19 Y Chromosome
Chromosome 18 • Represents approximately 2.7% of total DNA in cells • Believed that some genes on this chromosome can disrupt the course of normal development • An extra 18th chromosome can lead to Edward’s disease • Can lead to kidney malformations, heart defects, growth development problems, etc. • Contains such genes as: • ATPB1 – sends instructions for making proteins found throughout the body • FECH – makes the certain enzyme that produces Heme (found in blood) • LAMA3 – produces lamamins that help regulate cell growth
Chromosome 18 Cont’d • LPINZ – sends information in processing fats • SMAD4 – makes proteins involved in transmitting chemical signals • TTR – makes transthyretin, which transports vitamin A and hormones
Chromosome 19 • Represents more than 2% of DNA in cells • Associated with: • Breast Cancer • Alzheimer’s Disease • Affects long-term memory, characterized by dementia (pre- , early, moderate, and advanced) • Caused by the gene mutations of the genes APP, PSEN1, and PSEN2 • Genes in Chromosome 19 • DMPK – not very well-understood, apparently associated with normal function in heart, muscles, and brain cells
Chromosome 19 Cont’d • MAN2B1 – creates enzymes that digest and recycle materials in cells • HAMP – creates hepcidin, which helps maintain iron balance in the body • PRX – creates periaxin, which promotes the efficient transmission of nerve impulses • STK11 – creates an enzyme call serine, a tumor suppressor that keeps cells from growing and dividing too fast.
Y Chromosome • One of two sex chromosomes in humans • Found only in males • Genes in Y Chromosome • SRY – triggers the development of testis • SHOX – makes a protein that helps to regulate the performance of other genes • USPY9 – not well-understood, believed to be associated with sperm development שלום
Y Chromosome Cont’d • Defects associated with Y Chromosome • XX Chromosomes – occurs when the SRY gene is translocated and misplaced onto the X chromosome, and another X chromosome is formed, while the life form is still a male • XXYY Chromosomes – presence of an extra X and Y Chromosome, and prevents the testis from functioning normally, reducing the level of testosterone • XYY Chromosomes – tends to result in tall stature and learning problems, but unclear why