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Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Epistasis01:39

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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Trihybrid Crosses
Some of Mendel’s crosses examined three pairs of contrasting characteristics. Such a cross is called a trihybrid cross. A trihybrid cross is a combination of three individual monohybrid crosses. For example, plant height (tall vs. short), seed shape (round vs. wrinkled), and seed color (yellow vs. green).
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Complexity of matrix phenotypes.

Renato V Iozzo1, Achilleas D Theocharis2, Thomas Neill1

  • 1Department of Pathology, Anatomy and Cell Biology and the Cancer Cell Biology and Signaling Program, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, United States of America.

Matrix Biology Plus
|February 5, 2021
PubMed
Summary

The extracellular matrix (ECM) dynamically regulates cell behavior and is crucial in human diseases. This special issue defines complex ECM phenotypes using advanced research methods.

Keywords:
ADAM, a disintegrin and metalloproteinasesAGE, advanced glycation end productsAngiogenesisCancerCollagenDDR1, discoidin domain receptor 1ECM, extracellular matrixEGF, epidermal growth factorEGFR, epidermal growth factor receptorEMILIN1, elastin microfibril interfacer 1EMILIN2, elastin microfibril interfacer 2EMT, epithelial-mesenchymal transitionERα, estrogen receptor αERβ, estrogen receptor βGBM, glioblastomaHA, hyaluronanHAS2, hyaluronan synthase 2HAS2-AS1, HAS2 antisense 1HB-EGF, heparin binding EGFHMGA2, high-mobility group AT-Hook 2IBC, inflammatory breast cancerIGF-IR, insulin growth factor I receptorIR-A, insulin receptor ALEKTI, lympho-epithelial Kazal-type inhibitorLOX, lysyl oxidasesLTBP, latent TGFβ-binding proteinsMAGP, microfibril-associated glycoproteinsMET, mesenchymal-epithelial transitionMMP, matrix metalloproteinasesMethodologiesOB, osteoblastOI, osteogenesis imperfectaPARs, protease activated receptorsPG, proteoglycansPLL, poly-l-lysineProteoglycansROS, reactive oxygen speciesRTK, receptor tyrosine kinaseSLRP, small leucine rich proteoglycansSSR, solar-simulated radiationTGFβ, transforming growth factor βTNT, tunneling nanotubesUVR, ultraviolet radiationVEGF, vascular endothelial growth factormiR, microRNAtPA, tissue-type plasminogen activatoruPA, urokinase-type plasminogen activator

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Area of Science:

  • Biochemistry
  • Cell Biology
  • Pathology

Background:

  • The extracellular matrix (ECM) is a dynamic network that bi-directionally regulates cell behavior.
  • Alterations in cell-matrix signaling result in complex matrix phenotypes.
  • The ECM plays a role in nearly all human diseases, highlighting its critical importance.

Purpose of the Study:

  • To provide a functional definition for complex matrix phenotypes.
  • To address the inherent complexity of matrix phenotypes.
  • To consolidate current knowledge through expert reviews and original research.

Main Methods:

  • Utilizing state-of-the-art methods and research strategies.
  • Compiling a corpus of expertly written articles and reviews.
  • Presenting original research findings.

Main Results:

  • The collection of articles provides empirical and fundamental answers regarding matrix phenotypes.
  • Advanced research strategies were employed to investigate ECM functions.
  • The special issue offers insights into the dynamic nature of the ECM.

Conclusions:

  • A comprehensive understanding of matrix phenotypes is essential for comprehending human diseases.
  • The ECM's complexity necessitates advanced research approaches for accurate definition.
  • This special issue advances the functional definition and understanding of ECM phenotypes.