Sperm chromatin
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This document discusses the structure and organization of chromatin in somatic cells and sperm cells. In somatic cells, DNA is wrapped around histone proteins to form nucleosomes, which further condense to form the 30nm fiber. In sperm cells, histones are replaced by transitional proteins and protamines to heavily compact the DNA for protection and transport. This compaction involves acetylation, phosphorylation and ubiquitination of histones, followed by replacement with basic transitional proteins and protamines containing cysteine residues that form disulfide bonds, further condensing the DNA for sperm function. Various assays are used to evaluate the maturity and integrity of sperm chromatin structure.
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Retinoblastoma is caused by mutations (changes) in certain genes. Over the past few decades, scientists have learned how certain changes in a person’s DNA can cause cells of the retina to become cancerous. The DNA in each of our cells makes up our genes, which are the instructions for how our cells function. We usually look like our parents because they are the source of our DNA. But DNA affects much more than how we look. Some genes control when our cells grow, divide into new cells, and die at the right time. Certain genes that help cells grow, divide, or stay alive are called oncogenes. Others that slow down cell division or cause cells to die at the right time are called tumor suppressor genes. Cancers can be caused by DNA changes that turn on oncogenes or turn off tumor suppressor genes. The most important gene in retinoblastoma is the RB1 tumor suppressor gene. This gene makes a protein (pRb) that helps stop cells from growing too quickly. Each cell normally has 2 RB1 genes. As long as a retinal cell has at least one RB1 gene that works as it should, it will not form a retinoblastoma. But when both of the RB1 genes are mutated or missing, a cell can grow unchecked. This can lead to further gene changes, which in turn may cause cells to become cancerous.
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Genes
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Chromosomes
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Polymerase chain reaction
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Features of inheritance
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Trisomy 13
Trisomy 18
Trisomy 22
Turner syndrome
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For more details, visit www.medpgnotes.com
You can send your queries to medpgnotes@gmail.com
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Chromosomal breakage syndromes are conditions caused by improper DNA repair that lead to genomic instability. They include Louis-Bar syndrome, Fanconi anemia, Bloom syndrome, and Xeroderma pigmentosum. These syndromes are caused by mutations in genes responsible for DNA repair, resulting in an increased risk of cancer due to a failure to repair DNA damage. Common symptoms include bone marrow failure, skin abnormalities like dark spots, neurological issues, and premature aging. Management focuses on protecting skin from sun exposure and treating associated health problems.
Seminario Biomol
This study explored the correlation between Y chromosome microdeletions and male infertility in 166 infertile men and 50 fertile men as controls. DNA from blood samples was analyzed using PCR and electrophoresis to detect microdeletions in the azoospermia factor regions (AZFa, AZFb, AZFc) of the Y chromosome. The results showed microdeletions in 21% of infertile men compared to 0% in controls, with most microdeletions occurring in the AZFc region. The study supports an association between AZF microdeletions and infertility conditions like azoospermia and oligospermia.
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“Inheritance” in images, from Darwin’s “tree of life” to DNA’s iconic crystallography to the epigenetic dynamics However, the script needs to be interpreted and receives meaning only from the interplay with the environment
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2) There are several DNA repair mechanisms, including base excision repair, nucleotide excision repair, and mismatch repair for single-strand damage, as well as nonhomologous and homologous end joining for double-strand breaks.
3) The cell cycle is regulated by checkpoints at the G1/S and G2/M transitions, which are controlled by complexes of cyclin-dependent kinases (CDKs) and cyclins. CDK-cyclin complexes phosphorylate proteins to drive the cell cycle forward past
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This document summarizes a presentation on sperm DNA fragmentation (SDF) and male infertility. It discusses how SDF provides different information than routine semen analysis and is a better prognostic indicator. Elevated SDF is associated with infertility, poor assisted reproductive technology outcomes, and miscarriage. Several methods can assess SDF but differ in their ability to directly or indirectly measure damage. Lifestyle changes like reducing stress and smoking, treating underlying conditions, and using oral antioxidants can help lower SDF. Varicocele repair is also effective at reducing SDF levels in men with the condition.
Sperm DNA Fragmentation from the Male Infertility Specialist's Perspective
This document summarizes a presentation on sperm DNA fragmentation from the perspective of a male infertility specialist. It discusses the relationship between sperm DNA fragmentation and infertility, methods for assessing sperm DNA fragmentation, and strategies for managing elevated sperm DNA fragmentation levels. The key points are that sperm DNA fragmentation provides different and more prognostically useful information than a semen analysis, is mainly caused by oxidative stress during sperm transit through the epididymis, and is associated with infertility, poor assisted reproductive technology outcomes, and miscarriage.
Sperm DNA Fragmentation Test , Dr. Sharda Jain Lifecare Centre
This document discusses sperm DNA fragmentation testing, which analyzes sperm DNA integrity. It notes that while normal semen analysis cannot differentiate between fertile and infertile men, sperm DNA damage is a key factor in male infertility. High levels of DNA fragmentation are associated with failed fertility treatments, recurrent miscarriages, and impaired embryo development and pregnancy outcomes. The document recommends testing for men with unexplained infertility, failed IVF/ICSI attempts, miscarriage history, risk factors for DNA damage, or poor semen quality. It provides cutoff points for DNA fragmentation index values and states that ICSI may improve success over IVF for men with DFI over 30%. The test aims to help identify treatable causes of infertility and improve assisted reproduction
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Fish undertake several types of migration, including for feeding, breeding, and in response to temperature changes. Some fish migrate daily for food, annually for reproduction, or generationally with parents migrating to lay eggs then dying while offspring later migrate. Migrations can be potamodromous within freshwater, oceanodromous within seawater, diadromous between fresh and saltwater, anadromous from salt to freshwater for spawning, or catadromous from fresh to saltwater for breeding. Examples include salmon migrating anadromously from oceans to rivers to spawn and eels migrating catadromously from rivers to oceans to breed.
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Sperm DNA Fragmentation from the Male Infertility Specialist's Perspective
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Sperm chromatin
- 2. Chromatin structure in somatic cell • DNA • Proteins • Histones: rich of lys & arg • H1, H2A, H2B, H3, H4 • Non Histones • Acidic proteins • Hertons • Enzymes • Topoisomerase , • Polymerases • Helicase • Neutral proteins • Scarcely RNA
- 3. DNA structure Nucleotide Base (A,T,C,G) Pentose sugar (deoxy ribose) Phosphoric acid B DNA
- 4. Organization of chromatin structure • First level • Nucleosome: cylindrical shape ( diameter: 10 nm , height: 6nm) • Core particle contains an octamer of 2 each of the core histones (H2A, H2B, H3 and H4) • 146 bp of DNA wrapped 1.75 turns • 10 nm fiber: Nucleosome + linker DNA (0- 50bp)
- 5. Nucleosome
- 6. nucleosome- building blocks of chromosomes H2A: red H2B: yellow H3: purple H4: green Histones are small, positively-charged proteins
- 8. The nucleosome has an approximate twofold axis of symmetry
- 9. Higher-order chromatin structure H binds to linker DNA at one end of The nucleosome and the central DNA helix
- 10. The core Histone N-terminal tails are required for the formation of the 30-nm fiber The tail of H2A, H3 and H4 interact with adjacent nucleosome
- 11. Organization of chromatin structure • Second level • 30 nm fiber • Solenoid model • Zigzag (crossed linker) model • Nucleomer (super bead) model • Third level • Super coil
- 12. The addition of H1 leads to more compact nucleosomal DNA Without H1
- 14. 30-nm fiber Superhelix, 6 nucleosome per turn, supported by EM and X-ray studies Based on zigzag pattern upon H1 addition, requires linker DNA to pass through central axis,
- 16. Higher compaction of DNA involves large loops of nucleosomal DNA Nuclear scaffold (Topo II, SMC)
- 17. How histones chaperones facilitate the assembly of nucleosome during DNA replication (sliding clamp)
- 18. Chromatin organization in sperm During spermatogenesis spermatogonia undergo modification to produce spermatozoa that include: • Mitosis (spermatocytogenesis) • Meiosis • Spermiogenesis • Golgi phase • Cap phase • Acrosomal phase (chromatin condensation) • Maturation phase
- 19. Causes of condensation in sperm chromatin • Reduction of size • Facilitate of sperm penetration into oocyte • Protection of genome from physical, chemical and biological damages • Reprogram of paternal genome • Coordination of cell cycle between sperm and oocyte
- 20. Protein replacement in spermiogenesis TransitionalProteins SomaticHistones TesticularHistones Protamines Increase basic property
- 21. Testicular Histones • Absence of H1 • H2A • H2AZ • H2AX • H3 and H4 (hyperacetylation) • 15-20% remains in mature sperm
- 22. Mechanism of replacement • Histones acetylation(H4) • H2AX Phosphorylation • Ubiquitination
- 23. Transitional proteins Type of protein MW (KDa) Amino acid length Properties HPI1(TP1) 6 54 Rich of arg, lys, his DNA destabilization and promote of repair HPI2(TP2) 13 137 Rich of cys, arg, lys Bond to CG and cessation transcriptional activity HPS1 N/A 69 P2 precursor HPS2 N/A 66 P2 precursor
- 24. Protamines Type of Protamine MW (Da) Amino acid length Properties HP1 6692.2 50 Rich of arg, cys HP2 7652.4 57 Rich of his HP3 N/A 54 Rich of arg, cys, his HP4 N/A 58 Rich of arg, cys, his
- 26. Amino acid sequence of P1&P2 Human P2 and P1 Bovine P1 Anchoring domains His, Arg, Arg sequences
- 27. P2 family: zinc finger proteins • Contain cys2/his2 motif • Inhibition of transcription at the end of spermiogenesis • Stabilization of sperm chromatin by zinc • P2 family possibly attached to major groove of DNA
- 28. Comparison P1 and P2 • P1/P2 ratio= 0.98 0.12 • P1 rich of cys • P2 rich of his and few cys compare to P1 • P2 is more basic • P2 has more affinity to DNA
- 30. Mechanism of condensation • In bull and fish P1 attached to major groove of DNA • Anchoring domains attached to major groove • After the synthesis of protamine, and before its deposition on DNA, the serine and threonine residues in protamine are phosphorylated • After attachment, this residues dephosphorylated • Formation of intra and inter protamine disulfide bond
- 31. Mechanism of condensation • In humans and other mammalian which have two or more protamine there are contradictory evidence: • P1 & P2 lie down in major groove • P1 & P2 attached to both minor and major groove • P1 & P2 attached to external surface of the DNA chain
- 33. Evaluation of nuclear maturity • Chromatin decondensation induced in vitro • DNA staining after chromatin denaturation • Aniline blue staining • Assessment of thiol- disulfide status of nuclei • Ultra structural examination • Biochemical analysis • Comet assay • TUNEL assay • Sperm chromatin dispersion test (SCD test)