Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability

Development ◽  
2000 ◽  
Vol 127 (23) ◽  
pp. 5123-5132 ◽  
Author(s):  
E.C. Liao ◽  
B.H. Paw ◽  
L.L. Peters ◽  
A. Zapata ◽  
S.J. Pratt ◽  
...  
Keyword(s):  
Cell Morphology ◽  
Membrane Integrity ◽  
Cell Types ◽  
Structure And Function ◽  
Red Cells ◽  
Organelle Transport ◽  
Pleckstrin Homology Domain ◽  
Red Cell ◽  
Human Ortholog ◽  
And Function

Spectrins are key cytoskeleton proteins with roles in membrane integrity, cell morphology, organelle transport and cell polarity of varied cell types during development. Defects in erythroid spectrins in humans result in congenital hemolytic anemias with altered red cell morphology. Although well characterized in mammals and invertebrates, analysis of the structure and function of non-mammalian vertebrate spectrins has been lacking. The zebrafish riesling (ris) suffers from profound anemia, where the developing red cells fail to assume terminally differentiated erythroid morphology. Using comparative genomics, erythroid beta-spectrin (sptb) was identified as the gene mutated in ris. Zebrafish Sptb shares 62.3% overall identity with the human ortholog and phylogenetic comparisons suggest intragenic duplication and divergence during evolution. Unlike the human and murine orthologs, the pleckstrin homology domain of zebrafish Sptb is not removed in red cells by alternative splicing. In addition, apoptosis and abnormal microtubule marginal band aggregation contribute to hemolysis of mutant erythrocytes, which are features not present in mammalian red cells with sptb defects. This study presents the first genetic characterization of a non-mammalian vertebrate sptb and demonstrates novel features of red cell hemolysis in non-mammalian red cells. Further, we propose that the distinct mammalian erythroid morphology may have evolved from specific modifications of Sptb structure and function.

scholarly journals Plasma membrane integrity in health and disease: significance and therapeutic potential

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Catarina Dias ◽  
Jesper Nylandsted
Keyword(s):  
Plasma Membrane ◽  
Therapeutic Potential ◽  
Calcium Influx ◽  
Membrane Integrity ◽  
Cell Types ◽  
Physical Parameters ◽  
Membrane Repair ◽  
Plasma Membrane Integrity ◽  
Repair Mechanisms ◽  
And Function

AbstractMaintenance of plasma membrane integrity is essential for normal cell viability and function. Thus, robust membrane repair mechanisms have evolved to counteract the eminent threat of a torn plasma membrane. Different repair mechanisms and the bio-physical parameters required for efficient repair are now emerging from different research groups. However, less is known about when these mechanisms come into play. This review focuses on the existence of membrane disruptions and repair mechanisms in both physiological and pathological conditions, and across multiple cell types, albeit to different degrees. Fundamentally, irrespective of the source of membrane disruption, aberrant calcium influx is the common stimulus that activates the membrane repair response. Inadequate repair responses can tip the balance between physiology and pathology, highlighting the significance of plasma membrane integrity. For example, an over-activated repair response can promote cancer invasion, while the inability to efficiently repair membrane can drive neurodegeneration and muscular dystrophies. The interdisciplinary view explored here emphasises the widespread potential of targeting plasma membrane repair mechanisms for therapeutic purposes.

Cytogenetic, anatomical and blood group studies of sheep twin chimaeras

1970 ◽  
Vol 175 (1039) ◽  
pp. 183-200 ◽  
Keyword(s):  
Blood Cell ◽  
Blood Group ◽  
Sex Chromosomes ◽  
Cell Types ◽  
In Utero ◽  
Red Cells ◽  
Cell Populations ◽  
Red Cell ◽  
X Protein ◽  
Blood Grouping

Karyotyping and blood grouping methods were used to identify sheep twin chimaeras. Evidence that an exchange of blood cell precursors (the origin of chimaerism) had taken place in utero was obtained by examining lymphocytes in culture and finding the chromosomes of both sexes in one individual, or by finding admixture of red cell antigens, haemoglobin or ‘X ’ protein. Where chimaerism of sex chromosomes was found the pairs had identical red cell types, but two separate populations of red cells were not always identifiable. The four females in the pairs studied were freemartins. No correlation was found between the relative proportions of the two red cell populations and those of the two white cell populations. In one pair of chimaeric ewes, breeding tests showed that the major red cell populations in each case were the true genetic type. In the freemartins no correlation was found between the degree of masculinity and the numbers of male lymphocytes. A possible correlation of masculinity with red cell proportions is discussed.

Clarification of role of ATP in red-cell morphology and function

Nature ◽  
1977 ◽  
Vol 265 (5590) ◽  
pp. 166-168 ◽  
Author(s):  
C. FEO ◽  
N. MOHANDAS
Keyword(s):  
Cell Morphology ◽  
Red Cell ◽  
And Function

scholarly journals Emerging concepts in smooth muscle contributions to airway structure and function: implications for health and disease

2016 ◽  
Vol 311 (6) ◽  
pp. L1113-L1140 ◽  
Author(s):  
Y. S. Prakash
Keyword(s):  
Smooth Muscle ◽  
Cell Types ◽  
Structure And Function ◽  
Normal Lung ◽  
Future Research ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Health And Disease ◽  
Growth And Aging ◽  
And Function

Airway structure and function are key aspects of normal lung development, growth, and aging, as well as of lung responses to the environment and the pathophysiology of important diseases such as asthma, chronic obstructive pulmonary disease, and fibrosis. In this regard, the contributions of airway smooth muscle (ASM) are both functional, in the context of airway contractility and relaxation, as well as synthetic, involving production and modulation of extracellular components, modulation of the local immune environment, cellular contribution to airway structure, and, finally, interactions with other airway cell types such as epithelium, fibroblasts, and nerves. These ASM contributions are now found to be critical in airway hyperresponsiveness and remodeling that occur in lung diseases. This review emphasizes established and recent discoveries that underline the central role of ASM and sets the stage for future research toward understanding how ASM plays a central role by being both upstream and downstream in the many interactive processes that determine airway structure and function in health and disease.

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