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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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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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Author Spotlight: RNAi Inheritance and ChIP in C. elegans
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Transgenerational Inheritance of Familial Lipomyelomeningocele.

Thomas Larrew1, Ramin Eskandari1, Kenton R Holden2,3,4

  • 11 Department of Neurosurgery, Medical University of South Carolina, Charleston, SC, USA.

Journal of Child Neurology
|November 14, 2017
PubMed
Summary

This study identifies novel genetic variants in ARHGAP29 and RADIL genes in a father and son with lipomyelomeningocele. These findings suggest a potential genetic mechanism for this rare neural tube defect across generations.

Area of Science:

  • Genetics
  • Developmental Biology
  • Neurology

Background:

  • Lipomyelomeningocele is a complex neural tube defect with poorly understood origins.
  • It involves lipomatous tissue, vertebral defects, dural infiltration, and spinal cord tethering, leading to significant neurological issues.
Keywords:
ARHGAP29RADILfamiliallipomyelomeningoceleneural tube defectstransgenerational

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