Single-Nucleotide Polymorphism–Defined Class I and Class III Major Histocompatibility Complex Genetic Subregions Contribute to Natural Long-term Nonprogression in HIV Infection

2012 ◽  
Vol 205 (5) ◽  
pp. 718-724 ◽  
Author(s):  
J. Guergnon ◽  
C. Dalmasso ◽  
P. Broet ◽  
L. Meyer ◽  
S. J. Westrop ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Major Histocompatibility Complex ◽  
Hiv Infection ◽  
Class I ◽  
Major Histocompatibility ◽  
Class Iii ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Histocompatibility Complex

scholarly journals Analysis Of MYO1H Single Nucleotide Polymorphism In Class III Malocclusion With Mandibular Prognathism: A Preliminary Study

2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Siti Nazirah Yahya ◽  
Nurul Syafiqah Abdul Razak ◽  
Noraini Abu Bakar ◽  
Khairani Idah Mokhtar ◽  
Azrul Fazwan Kharuddin
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Local Population ◽  
Class I ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
Nucleotide Polymorphism ◽  
Marker Allele ◽  
Single Nucleotide ◽  
Allele Distribution ◽  
Mandibular Prognathism

Introduction: Evidence suggests that several genes; including MYO1H, play an important role in the etiology of Class III malocclusion. Single nucleotide polymorphism (SNP) in marker rs10850110 (locus 12q24.11) within MYO1H gene has been associated with the incidence of mandibular prognathism (MP). MYO is a class 1 myosin that is responsible for the synthesis of Matrilin-1; an important protein involved in the formation of cartilage's extracellular matrix, hence is implicated in the formation of mandibular condyle cartilage. This study aimed to detect the presence of MYO1H (rs10850110) SNP and to determine its genotype and allele distribution in MP patient in the local population. Materials and Methods: The sample comprises of 31 patients; 14 patients from class I malocclusion (control samples) and 17 patients from class III malocclusion (MP). Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for the marker rs10850110 and the genotyping was done by sequencing. Chi-square test was used to determine the over-representation of marker allele (p<0.05). Results:  Presence of MYO1H SNP (rs10850110) was detected in local population analysed and the distribution of its genotype and allele could be observed. There were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within control (Class I) and Class III malocclusion. Conclusion(s):  Our findings are in agreement with previous studies suggesting positive influence of MYO1H (rs10850110) SNP in the incidence of MP. Further studies should be developed in order to understand the exact role and mechanism of MYO1H in different classes of malocclusions.

scholarly journals Determination Of RUNX2 Single Nucleotide Polymorphism rs6930053 In Class I, II And III Malocclusions

2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Khairani Idah Mokhtar ◽  
Noraini Abu Bakar ◽  
Azrul Fazwan Kharuddin
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Local Population ◽  
Class Ii ◽  
Class I ◽  
Class Ii Malocclusion ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Chondrocyte Maturation

Introduction: Runt-related transcription factor 2 (RUNX2) plays important roles in osteoblast differentiation, tooth development and chondrocyte maturation; hence its involvement in craniofacial development is paramount. Mutation in RUNX2 is implicated with cleidocranial dysplasia; a bone development disorder, while single nucleotide polymorphism (SNP) in RUNX2 is associated with Class II/2 malocclusion. This study aimed to determine RUNX2 SNP of DNA marker (rs6930053) in malocclusion patients from local population. Materials and Methods: Genomic DNA were extracted from unstimulated saliva of 31 Class I (control samples), 30 Class II and 30 Class III malocclusion patients. Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for marker rs6930053 and the genotyping was done by sequencing. Chi-square test was used to determine differences in allele and genotype frequencies (p<0.05). Results:  No significant differences were observed in RUNX2 SNP (rs8004560) in Class I and Class III malocclusion. However, there were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within Class II alone; while significant differences was detected only in allele frequency between control and Class II malocclusion (p=0.019). Conclusion(s):  There is genetic association between RUNX2 (rs6930053) in Class II malocclusion in our population. Further studies involving larger number of samples and other DNA markers of RUNX2 gene should be developed in order to understand the exact role and mechanism of RUNX2 in different classes of malocclusions. 

scholarly journals Identification Of PAX9 Single Nucleotide Polymorphism In Class III Malocclusion Patients With Mandibular Prognatism

2017 ◽  
Vol 16 (2) ◽  
Author(s):  
Noraini Abu Bakar ◽  
Khairani Idah Mokhtar ◽  
Azrul Fazwan Kharuddin
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Local Population ◽  
Class I ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
Nucleotide Polymorphism ◽  
Chi Square ◽  
Marker Allele ◽  
Single Nucleotide ◽  
Mandibular Prognathism

Introduction: PAX9 (Paired box 9) gene is one of the genes which play significant role during craniofacial development. Single nucleotide polymorphism (SNP) in PAX9 has been associated with Class II/Division 2 malocclusion (with or without hypodontia). However, the relationship between PAX9 SNP marker (rs8004560) with mandibular prognathism (MP) has not been analysed, at least in our local population. This study aimed to detect the presence of PAX9 (rs8004560) SNP in Class III malocclusion patients (with MP) in the local population. Materials and Methods: Genomic DNA were extracted from unstimulated saliva of 31 class I malocclusion (control samples) and 30 patients from Class III malocclusion (MP). Cephalometric measurements were performed prior to saliva samples collection. The DNA was amplified using the specific primers for the marker rs8004560 and the genotyping was done by sequencing. Chi-square test was used to determine the overrepresentation of marker allele (p<0.05). Results:  Presence of PAX9 SNP (rs8004560) was detected in local population analysed and the distribution of its genotype and allele could be observed. There were significant differences between allele (p=0.000) and genotype (p=0.000) frequency within control (Class I) and Class III malocclusion. Conclusion(s): The most common allele of a marker flanking PAX9 (rs8004560) was over-represented in the mandibular prognathism (MP) subjects indicating the genetic association of PAX9 (rs8004560) SNP in the incidence of MP. Further studies involving larger number of samples should be developed in order to understand the exact role and mechanism of PAX9 in different classes of malocclusions.

scholarly journals The 3D nuclear conformation of the major histocompatibility complex changes upon cell activation both in porcine and human macrophages

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Florence Mompart ◽  
Alain Kamgoué ◽  
Yvette Lahbib-Mansais ◽  
David Robelin ◽  
Agnès Bonnet ◽  
...  
Keyword(s):  
Major Histocompatibility Complex ◽  
Nuclear Organization ◽  
Class Ii ◽  
Expression Level ◽  
Class I ◽  
Activation Process ◽  
Major Histocompatibility ◽  
Class Iii ◽  
Histocompatibility Complex ◽  
The Impact

Abstract Background The crucial role of the major histocompatibility complex (MHC) for the immune response to infectious diseases is well-known, but no information is available on the 3D nuclear organization of this gene-dense region in immune cells, whereas nuclear architecture is known to play an essential role on genome function regulation. We analyzed the spatial arrangement of the three MHC regions (class I, III and II) in macrophages using 3D-FISH. Since this complex presents major differences in humans and pigs with, notably, the presence of the centromere between class III and class II regions in pigs, the analysis was implemented in both species to determine the impact of this organization on the 3D conformation of the MHC. The expression level of the three genes selected to represent each MHC region was assessed by quantitative real-time PCR. Resting and lipopolysaccharide (LPS)-activated states were investigated to ascertain whether a response to a pathogen modifies their expression level and their 3D organization. Results While the three MHC regions occupy an intermediate radial position in porcine macrophages, the class I region was clearly more peripheral in humans. The BAC center-to-center distances allowed us to propose a 3D nuclear organization of the MHC in each species. LPS/IFNγ activation induces a significant decompaction of the chromatin between class I and class III regions in pigs and between class I and class II regions in humans. We detected a strong overexpression of TNFα (class III region) in both species. Moreover, a single nucleus analysis revealed that the two alleles can have either the same or a different compaction pattern. In addition, macrophage activation leads to an increase in alleles that present a decompacted pattern in humans and pigs. Conclusions The data presented demonstrate that: (i) the MHC harbors a different 3D organization in humans and pigs; (ii) LPS/IFNγ activation induces chromatin decompaction, but it is not the same area affected in the two species. These findings were supported by the application of an original computation method based on the geometrical distribution of the three target genes. Finally, the position of the centromere inside the swine MHC could influence chromatin reorganization during the activation process.

scholarly journals The r144 Major Histocompatibility Complex Class I-Like Gene of Rat Cytomegalovirus Is Dispensable for both Acute and Long-Term Infection in the Immunocompromised Host

2000 ◽  
Vol 74 (2) ◽  
pp. 1045-1050 ◽  
Author(s):  
Patrick S. Beisser ◽  
Jeroen S. Kloover ◽  
Gert E. L. M. Grauls ◽  
Marinus J. Blok ◽  
Cathrien A. Bruggeman ◽  
...  
Keyword(s):  
Major Histocompatibility Complex ◽  
Major Histocompatibility Complex Class ◽  
Virus Replication ◽  
Acute Phase ◽  
Class I ◽  
Complex Class ◽  
Major Histocompatibility ◽  
Histocompatibility Complex

ABSTRACT The rat cytomegalovirus (RCMV) r144 gene encodes a polypeptide homologous to major histocompatibility complex class I heavy chains. To study the role of r144 in virus replication, an RCMV r144 null mutant strain (RCMVΔr144) was generated. This strain replicated with efficiency similar to that of wild-type (WT) RCMV in vitro. Additionally, WT RCMV and RCMVΔr144 were found not to differ in their replication characteristics in vivo. First, the survival rate was similar among groups of immunosuppressed rats infected with either RCMVΔr144 or WT RCMV. Second, the dissemination of virus did not differ in either RCMVΔr144- or WT RCMV-infected, immunosuppressed rats, either in the acute phase of infection or approximately 1 year after infection. These data indicate that the RCMV r144 gene is essential neither for virus replication in the acute phase of infection nor for long-term infection in immunocompromised rats. Interestingly, in a local infection model in which footpads of immunosuppressed rats were inoculated with virus, a significantly higher number of infiltrating macrophage cells as well as of CD8+ T cells was observed in WT RCMV-infected paws than in RCMVΔr144-infected paws. This suggests that r144 might function in the interaction with these leukocytes in vivo.

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