scholarly journals Natural selection onTMPRSS6associated with the blunted erythropoiesis and improved blood viscosity in Tibetan Pigs

2018 ◽  
Author(s):  
Xiaoyan Kong ◽  
Xinxing Dong ◽  
Shuli Yang ◽  
Jinhua Qian ◽  
Jianfa Yang ◽  
...  

AbstractTibetan pigs, indigenous to Tibetan plateau, are well adapted to hypoxia. So far, there have been not any definitively described genes and functional sites responsible for hypoxia adaptation for the Tibetan pig. Here we conducted resequencing of the nearly entire genomic region (40.1 kb) of the candidate geneTMPRSS6(Transmembrane protease, serine 6) associated with hemoglobin concentration (HGB) and red blood cell count (RBC) in 40 domestic pigs and 40 wild boars from five altitudes along the Tea-horse ancient road and identified 708 SNPs, in addition to an indel (CGTG/----) in the intron 10. Both the CGTG deletion frequency and the pairwise r2linkage disequilibrium showed an increase with elevated altitudes in 838 domestic pigs from five altitudes, suggesting thatTMPRSS6has been under Darwinian positive selection. As the conserved core sequence of hypoxia-response elements (HREs), the deletion of CGTG in Tibetan pigs decreased the expression levels ofTMPRSS6mRNA and protein in the liver revealed by real-time quantitative PCR and western blot, respectively. To explore whether reducedTMPRSS6expression level could improve blood viscosity, the relationship between CGTG indel and hematologic and hemorheologic parameters in 482 domestic pigs from continuous altitudes was detected and dissected a genetic effect on reducing HGB by 13.25g/L in Gongbo’gyamda Tibetan pigs and decreasing MCV by 4.79 fl in Diqing Tibetan pigs. In conclusion, the CGTG deletion ofTMPRSS6resulted in lower HGB and smaller MCV, thereby blunting erythropoiesis and improving blood viscosity as well as erythrocyte deformability.

2016 ◽  
Vol 8 (2) ◽  
pp. 1 ◽  
Author(s):  
Mohamed A. Elblbesy ◽  
Abdelrahman T. Hereba

<p class="1Body">This study introduces a quantitative analysis of the coefficients of the power law model, which is used to describe the non-Newtonian behavior of blood. Twenty blood samples from healthy donors were used to measure the whole blood viscosity under different values of the shear rates, which are between 2.25 and 450.0 s<sup>-1</sup>. The shear rate viscosity curves were used to calculate <em>n</em> (flow index) and <em>m</em> (the consistency of the fluid) according to the power law model. Strong correlations (R<sup>2 </sup>&gt; 0.5) between <em>m</em> and the hematocrit (HCT %), hemoglobin (Hb), erythrocytes count (RBC), mean corpuscle volume (MCV), and mean corpuscle hemoglobin concentration (MCHC) were obtained. Strong correlations (R<sup>2 </sup>&gt; 0.5) between <em>n</em> and the RBC, MCV, and MCHC were achieved. The relation obtained between the power law coefficients and the blood parameters in the present investigation provides new parameters that can be used to evaluate the flow state of blood besides blood viscosity. In addition, these parameters may be used to examine blood under pathological conditions, representing a new tool for the diagnosis of blood abnormal conditions.</p>


1994 ◽  
Vol 188 (1) ◽  
pp. 103-114 ◽  
Author(s):  
R Wells ◽  
J Baldwin

Erythrocytes from green turtle hatchlings contain a single embryonic component, unlike those from other cleidoic eggs, in which adult hemoglobin (Hb) constitutes a significant fraction of total Hb at hatching. The functional properties of the isolated and purified green turtle hatchling Hb that distinguish it from adult Hb are a high affinity for oxygen and marked sensitivity to organic phosphate modulators. Hatchling erythrocytes also contain higher concentrations of ATP and 2,3-diphosphoglyceric acid, but their oxygen affinity is indistinguishable from that of adult erythrocytes. Hatchling erythrocyte mean cell volume is approximately half of the adult value, but hematocrit, blood hemoglobin concentration and blood viscosity of hatchlings and adults are similar. Oxygen-carrying capacity in green turtles, unlike that of other diving vertebrates, corresponds with a theoretically derived optimum. The possibility of allosteric control of Hb oxygen-binding in hatchlings may relate not to the challenge of exercise during the dispersal phase but to conditions in the late embryo in the nest.


2020 ◽  
Vol 51 (4) ◽  
pp. 203-211
Author(s):  
Krzysztof Lewandowski

AbstractErythrocytosis is defined not only by an increase in the erythrocyte count, hemoglobin concentration, and hematocrit value, but also by the occurrence of specific symptoms, the intensity and frequency of which depend on the character of the initial genetic lesion. Ischemic episodes and thrombotic complications caused by increased blood viscosity are frequently the first clinical manifestation of the disease. This paper represents the current level of knowledge about the pathogenesis of erythrocytosis and the diagnostic algorithms used to precisely define the type of the disease.


1998 ◽  
Vol 89 (Supplement) ◽  
pp. 645A ◽  
Author(s):  
David M. Eckmann ◽  
Shelly Bowers ◽  
David Barclay ◽  
Mark Stecker ◽  
Joseph Bavaria ◽  
...  

2020 ◽  
Vol 2020 ◽  
pp. 1-16
Author(s):  
Yoshiki Yasukochi ◽  
Takayuki Nishimura ◽  
Juan Ugarte ◽  
Mayumi Ohnishi ◽  
Mika Nishihara ◽  
...  

The physiological characteristics of Andean natives living at high altitudes have been investigated extensively, with many studies reporting that Andean highlanders have a higher hemoglobin (Hb) concentration than other highlander populations. It has previously been reported that positive natural selection has acted independently on the egl-9 family hypoxia inducible factor 1 (EGLN1) gene in Tibetan and Andean highlanders and is related to Hb concentration in Tibetans. However, no study has yet revealed the genetic determinants of Hb concentration in Andeans even though several single-nucleotide polymorphisms (SNPs) in EGLN1 have previously been examined. Therefore, we explored the relationship between hematological measurements and tag SNPs designed to cover the whole EGLN1 genomic region in Andean highlanders living in Bolivia. Our findings indicated that haplotype frequencies estimated from the EGLN1 SNPs were significantly correlated with Hb concentration in the Bolivian highlanders. Moreover, we found that an Andean-dominant haplotype related to high Hb level may have expanded rapidly in ancestral Andean highlander populations. Analysis of genotype data in an ~436.3 kb genomic region containing EGLN1 using public databases indicated that the population structure based on EGLN1 genetic markers in Andean highlanders was largely different from that in other human populations. This finding may be related to an intrinsic or adaptive physiological characteristic of Andean highlanders. In conclusion, the high Hb concentrations in Andean highlanders can be partly characterized by EGLN1 genetic variants.


2010 ◽  
Vol 7 (1) ◽  
Author(s):  
Kosuke K Iwaki ◽  
Suhail H Qazi ◽  
Jean Garcia-Gomez ◽  
Deanna Zeng ◽  
Yasuhiro Matsuda ◽  
...  

1989 ◽  
Vol 66 (1) ◽  
pp. 96-101 ◽  
Author(s):  
M. B. Hershenson ◽  
J. A. Schena ◽  
P. A. Lozano ◽  
M. J. Jacobson ◽  
R. K. Crone

At least two investigators have demonstrated a reduction in O2 extraction during induced hypothermia (Cain and Bradley, J. Appl. Physiol. 55: 1713–1717, 1983; Schumacker et al., J. Appl. Physiol. 63: 1246–1252, 1987). We hypothesized that administration of pentoxiphylline (PTX), a theobromine that lowers blood viscosity and has vasodilator effects, would increase O2 extraction during hypothermia. To test this hypothesis, we studied O2 transport in anesthetized, paralyzed, mechanically ventilated beagles exposed to hypoxic hypoxia during either 1) normothermia (38 degrees C), 2) hypothermia (30 degrees C), or 3) hypothermia + PTX (30 degrees C and PTX, 20 mg.kg-1.h-1). Measurements included arterial and mixed venous PO2, hemoglobin concentration and saturation, cardiac output, systemic vascular resistance (SVR), blood viscosity, and O2 consumption (VO2). Critical levels of O2 delivery (DO2, the product of arterial O2 content and cardiac output) were determined by a system of linear regression. Hypothermia significantly decreased base line cardiac output (-35%), DO2 (-37%), and VO2 (-45%), while increasing SVR and blood viscosity. Addition of PTX increased cardiac output (35%) and VO2 (14%), and returned SVR and blood viscosity to normothermic levels. Hypothermia alone failed to significantly reduce the critical level of DO2, but addition of PTX did [normothermia, 11.4 +/- 4.2 (SD) ml.kg-1.min-1; hypothermia, 9.3 +/- 3.6; hypothermia + PTX, 6.6 +/- 1.3; P less than 0.05, analysis of variance]. The O2 extraction ratio (VO2/DO2) at the critical level of DO2 was decreased during hypothermia alone (normothermia, 0.60 +/- 0.13; hypothermia, 0.42 +/- 0.16; hypothermia + PTX, 0.62 +/- 0.19; P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)


Author(s):  
J. A. Pollock ◽  
M. Martone ◽  
T. Deerinck ◽  
M. H. Ellisman

Localization of specific proteins in cells by both light and electron microscopy has been facilitate by the availability of antibodies that recognize unique features of these proteins. High resolution localization studies conducted over the last 25 years have allowed biologists to study the synthesis, translocation and ultimate functional sites for many important classes of proteins. Recently, recombinant DNA techniques in molecular biology have allowed the production of specific probes for localization of nucleic acids by “in situ” hybridization. The availability of these probes potentially opens a new set of questions to experimental investigation regarding the subcellular distribution of specific DNA's and RNA's. Nucleic acids have a much lower “copy number” per cell than a typical protein, ranging from one copy to perhaps several thousand. Therefore, sensitive, high resolution techniques are required. There are several reasons why Intermediate Voltage Electron Microscopy (IVEM) and High Voltage Electron Microscopy (HVEM) are most useful for localization of nucleic acids in situ.


2009 ◽  
Vol 14 (2) ◽  
pp. 160-167 ◽  
Author(s):  
Katariina Salmela-Aro ◽  
Sanna Read ◽  
Jari-Erik Nurmi ◽  
Markku Koskenvuo ◽  
Jaakko Kaprio ◽  
...  

This study examined genetic and environmental influences on older women’s personal goals by using data from the Finnish Twin Study on Aging. The interview for the personal goals was completed by 67 monozygotic (MZ) pairs and 75 dizygotic (DZ) pairs. The tetrachoric correlations for personal goals related to health and functioning, close relationships, and independent living were higher in MZ than DZ twins, indicating possible genetic influence. The pattern of tetrachoric correlations for personal goals related to cultural activities, care of others, and physical exercise indicated environmental influence. For goals concerning health and functioning, independent living, and close relationships, additive genetic effect accounted for about half of the individual variation. The rest was the result of a unique environmental effect. Goals concerning physical exercise and care of others showed moderate common environmental effect, while the rest of the variance was the result of a unique environmental effect. Personal goals concerning cultural activities showed unique environmental effects only.


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