Publications by authors named "Jill L Russ"

Sex chromosome aneuploidies (SCAs) are common genetic syndromes characterized by the presence of an aberrant number of X and Y chromosomes due to meiotic defects. These conditions impact the structure and function of diverse tissues, but the proximal effects of SCAs on genome organization are unknown. Here, to determine the consequences of SCAs on global genome organization, we have analyzed multiple architectural features of chromosome organization in a comprehensive set of primary cells from SCA patients with various ratios of X and Y chromosomes by use of imaging-based high-throughput chromosome territory mapping (HiCTMap).

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Article Synopsis
  • The study focuses on developing HiCTMap, a new method for quickly and accurately analyzing the 2D and 3D positions of chromosomes in mammalian cells, addressing the lack of high-throughput tools in this field.
  • HiCTMap utilizes an optimized staining protocol combined with automated image analysis to detect chromosome territories in large populations of cells, confirming the correct number of chromosomes in different genotypes.
  • This technique allows for precise measurement of chromosome territory area, volume, and position, and is compatible with RNA FISH methods, making it valuable for mapping chromosome territories across various cell types and tissues.
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  • Therapeutic gene delivery via retroviral vectors, especially those based on murine leukemia virus (MLV), offers stable integration into the host's genome but raises safety concerns due to potential activation of nearby oncogenes.
  • Self-inactivating (SIN) vectors aim to mitigate these risks by removing viral enhancers/promoters, yet current SIN vectors show variability in their 3' long terminal repeats (LTRs).
  • Research indicates that many of these SIN vectors still exhibit strong promoter activity, which could complicate the interpretation of experimental findings in gene therapy research.
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Human PiT2 (PiT2) is a multiple-membrane-spanning protein that functions as a type III sodium phosphate cotransporter and as the receptor for amphotropic murine leukemia virus (A-MuLV). Human PiT1 (PiT1), another type III sodium phosphate cotransporter, is a highly related protein that functions as a receptor for gibbon ape leukemia virus but not for A-MuLV. The ability of PiT1 and PiT2 to function as discrete viral receptors with unique properties presumably is reflected in critical residue differences between these two proteins.

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The mammalian gammaretroviruses gibbon ape leukemia virus (GALV) and feline leukemia virus subgroup B (FeLV-B) can use the same receptor, Pit1, to infect human cells. A highly polymorphic nine-residue sequence within Pit1, designated region A, has been proposed as the virus binding site, because mutations in this region abolish Pit1-mediated cellular infection by GALV and FeLV-B. However, a direct correlation between region A mutations deleterious for infection and loss of virus binding has not been established.

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