Presentation is loading. Please wait.

Presentation is loading. Please wait.

Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4- CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex  Erwin K.

Published byTracy Ramsey Modified over 5 years ago

Similar presentations

Presentation on theme: "Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4- CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex  Erwin K."— Presentation transcript:

1 Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4- CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex  Erwin K. Chung, Yan Yang, Robert M. Rennebohm, Marja-Liisa Lokki, Gloria C. Higgins, Karla N. Jones, Bi Zhou, Carol A. Blanchong, C. Yung Yu  The American Journal of Human Genetics  Volume 71, Issue 4, Pages (October 2002) DOI: /342777 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

2 Figure 1 The 1-2-3–locus concept of human C4 and RCCX modular variations. This map of the human MHC class III region shows the physical length variants among the monomodular, bimodular, and trimodular RCCX structures. The MHC class I genes are located at the telomeric end; the MHC class II genes are located at the centromeric end. The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Homoexpression of C4A in a trimodular LLL haplotype from a white family. A, Pedigree of the family C008. B, Genomic TaqI RFLP, to show the RCCX modular variations. C, Genomic PshAI-RFLP, to show the number of RCCX modules by determining the relative dosages of RP2 and RP1. D, PmeI-PFGE analysis, to show the length variants of RCCX haplotypes. E, Immunofixation, to show the relative quantities of C4A and C4B allotypes. F, PshAI-PvuII RFLP, to show the relative dosage of C4A and C4B genes in each individual. G, LSP-RFLP analysis, to determine the relative dosage of C4A and C4B. The dark-background panels are ethidium bromide–stained pictures that contain artifact results because of heteroduplexes. The light-background pictures are results of autoradiography corresponding to LSP-RFLP images free of heteroduplex effects. The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

4 Figure 3 A family with a trimodular RCCX haplotype consisting of two long and one short C4 genes. A, Genomic TaqI-RFLP analysis of RCCX modules. B, PmeI-PFGE analysis, to show haplotypes of RCCX length variants. C, Immunofixation of EDTA-plasma, to show the qualitative and quantitative variations of C4A and C4B proteins. D, Genomic PshAI-PvuII RFLP, to determine the relative dosage of C4A and C4B. The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

5 Figure 4 A patient with JRA who had the quadrimodular RCCX haplotype consisting of two short C4 and two long C4 genes. A, Genomic TaqI-RFLP analysis of RCCX modules. B, PshAI RFLP, to show the relative dosage of RP2 and RP1. C, Immunofixation, to determine the C4A and C4B allotypes. D, Genomic PshAI-PvuII RFLP, to determine the relative gene dosage of C4A and C4B. E, PmeI PFGE, to show the quadrimodular RCCX in J20 (lane 2). Lanes 1 and 3 are references for LLL/LL and LS/L RCCX structures, respectively. The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Quadrimodular and trimodular RCCX structures in an Asian family with a pediatric patient with SLE. A, Genomic TaqI-RFLP analysis of RCCX modules. B, PmeI PFGE of the length variants in RCCX haplotypes. C, Immunofixation of human complement C3 (anti-C3) and C4 (anti-C4). The sample from lane 1A was taken from the pediatric patient with SLE (CS-P4) while her disease was in remission; the sample from lane 1 was taken from the patient in disease flare. Lanes 2 and 3 were samples from CS-M4 and CS-F4, respectively. D, Genomic PshAI-PvuII RFLP, to determine the relative dosage of C4A and C4B. The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

7 Figure 6 Determining the configurations of long and short C4A and C4B genes in multi-modular RCCX structures. A, PacI-PFGE analysis of long or short C4 genes linked to TNXA and TNXB. B, A scheme illustrating the locations (upward arrows) and size of the PacI restriction fragments containing the C4 and TNX in three different length variants. C, Exon-intron structure of a short C4 gene and PCR strategy to amplify the genomic region between exons 9 and 31. E9.5 and E31.3 are primers used for amplification of the 7.0-kb genomic fragment for the short C4 gene. The PshAI restriction maps for the C4A and C4B genes are shown in red and blue, respectively. D, Restriction analysis of the PCR fragments from four different individuals with short C4. Lanes 1–4 are undigested PCR products of E9.5-E31.3. Lanes 5–8 are digested with PshAI. Lanes 1 and 5 are from an individual with homozygous, monomodular short C4B genes. E, Southern blot analysis of the genomic fragments in panel D, using a C4d exons 22–25 probe. The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

8 Figure 7 Mechanistic models to generate LSL (A) and SLSL (B) modules of RCCX by unequal crossovers The American Journal of Human Genetics  , DOI: ( /342777) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Download ppt "Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4- CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex  Erwin K."

Similar presentations

Quantitative Detection and Differentiation of Human Herpesvirus 6 Subtypes in Bone Marrow Transplant Patients by Using a Single Real-Time Polymerase Chain.

Quantitative Detection and Differentiation of Human Herpesvirus 6 Subtypes in Bone Marrow Transplant Patients by Using a Single Real-Time Polymerase Chain.
Deletions of the INK4A Gene Occur in Malignant Peripheral Nerve Sheath Tumors but not in Neurofibromas  Helen P. Kourea, Irene Orlow, Bernd W. Scheithauer,

Deletions of the INK4A Gene Occur in Malignant Peripheral Nerve Sheath Tumors but not in Neurofibromas  Helen P. Kourea, Irene Orlow, Bernd W. Scheithauer,
Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients  Lawrence T. Reiter,

Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients  Lawrence T. Reiter,
Molecular characterisation of Haemophilus influenzae type a and untypeable strains isolated simultaneously from cerebrospinal fluid and blood: novel use.

Molecular characterisation of Haemophilus influenzae type a and untypeable strains isolated simultaneously from cerebrospinal fluid and blood: novel use.
CD36 Polymorphism Is Associated with Protection from Cerebral Malaria

CD36 Polymorphism Is Associated with Protection from Cerebral Malaria
Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Transmission/Disequilibrium Tests for Extended Marker Haplotypes
by Cheng-Han Huang, Ying Chen, Marion E. Reid, and Christine Seidl

by Cheng-Han Huang, Ying Chen, Marion E. Reid, and Christine Seidl
Isothermal Multiple Displacement Amplification

Isothermal Multiple Displacement Amplification
Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G
Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing  Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.

Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing  Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,
Michael Cullen, Stephen P

Michael Cullen, Stephen P
Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.

Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype.
Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2 
Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease  Nahid Tayebi, Barbara.

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease  Nahid Tayebi, Barbara.
Thomas W. Prior, Scott J. Bridgeman 

Thomas W. Prior, Scott J. Bridgeman 
A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy  Alessandra Ferlini,

A Novel Alu-Like Element Rearranged in the Dystrophin Gene Causes a Splicing Mutation in a Family with X-Linked Dilated Cardiomyopathy  Alessandra Ferlini,
I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P

I. Silveira, I. Alonso, L. Guimarães, P. Mendonça, C. Santos, P
Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a.

Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a.
Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1  Ingrid Eisenbarth, Kim Beyer, Winfrid.

Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1  Ingrid Eisenbarth, Kim Beyer, Winfrid.

Similar presentations

Ads by Google