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Pseudogenes

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Cover of 'Pseudogenes'

Table of Contents

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    Book Overview
  2. Altmetric Badge
    Chapter 1 Pseudogene Redux with New Biological Significance
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    Chapter 2 Contribution of Pseudogenes to Sequence Diversity
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    Chapter 3 Computational Methods for Pseudogene Annotation Based on Sequence Homology
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    Chapter 4 Computational Methods of Identification of Pseudogenes Based on Functionality: Entropy and GC Content.
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    Chapter 5 Methods of Identification of Pseudogenes Based on Functionality: Hybridization of 18S rRNA and mRNA During Translation
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    Chapter 6 Whole-Genome Identification of Neutrally Evolving Pseudogenes Using the Evolutionary Measure dN/dS
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    Chapter 7 Methods to study the occurrence and the evolution of pseudogenes through a phylogenetic approach.
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    Chapter 8 Methods for Detecting Transcribed Pseudogenes: PCR on Regions of High Sequence Similarity Followed by Cloning and Sequencing
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    Chapter 9 RNA Amplification for Pseudogene Detection Using RNA-Seq.
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    Chapter 10 GENCODE Pseudogenes
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    Chapter 11 Methods to Detect Transcribed Pseudogenes: RNA-Seq Discovery Allows Learning Through Features
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    Chapter 12 Proteomics techniques for the detection of translated pseudogenes.
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    Chapter 13 Pseudogenes as Competitive Endogenous RNAs: Target Prediction and Validation.
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    Chapter 14 Pseudogenes: A Novel Source of trans-Acting Antisense RNAs
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    Chapter 15 Pseudogene-Derived Endogenous siRNAs and Their Function
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    Chapter 16 Methods to Study Translated Pseudogenes: In Vitro Translation, Fusion with a Tag/Reporter Gene, and Complementation Assay
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    Chapter 17 Targeted and robust amplification of mitochondrial DNA in the presence of nuclear-encoded mitochondrial pseudogenes using φ29 DNA polymerases.
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    Chapter 18 Pseudogenes
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    Chapter 19 Mutational Analysis of CYP21A2 Gene and CYP21A1P Pseudogene: Long-range PCR on Genomic DNA.
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    Chapter 20 PMS2 Gene Mutational Analysis: Direct cDNA Sequencing to Circumvent Pseudogene Interference
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    Chapter 21 Dealing with Pseudogenes in Molecular Diagnostics in the Next-Generation Sequencing Era
Attention for Chapter 19: Mutational Analysis of CYP21A2 Gene and CYP21A1P Pseudogene: Long-range PCR on Genomic DNA.
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Chapter title
Mutational Analysis of CYP21A2 Gene and CYP21A1P Pseudogene: Long-range PCR on Genomic DNA.
Chapter number 19
Book title
Pseudogenes
Published in
Methods in molecular biology, April 2014
DOI 10.1007/978-1-4939-0835-6_19
Pubmed ID
Book ISBNs
978-1-4939-0834-9, 978-1-4939-0835-6
Authors

Hsien-Hsiung Lee, Hsien-Hsiung Lee B.S.

Editors

Laura Poliseno

Abstract

CYP21A2, the gene that codes for P450c21 (Steroid 21-hydroxylase), has a duplicated pseudogene called CYP21A1P. The gene and the pseudogene share 98 % and 96 % sequence homology in exons and in noncoding sequences, respectively, and are located 30 kb apart within the HLA class III human histocompatibility complex locus on chromosome 6p21.3. CYP21A1P is inactive due to the presence of 11 deteriorated mutations in its coding region. These mutations can be transferred to the functional CYP21A2 through intergenic recombination during meiosis or mitosis and lead to the congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency. Conversely, portions of CYP21A2 sequence can be transferred to CYP21A1P, modifying the haplotype. Here, we describe a well-established protocol that can be used to unambiguously study the mutational profile of CYP21A2 gene and CYP21A1P pseudogene. The protocol is based on long-range PCR amplification with allele-specific primers, followed by DNA sequencing of smaller fragments.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 16%
Student > Master 3 16%
Researcher 3 16%
Other 2 11%
Student > Ph. D. Student 1 5%
Other 1 5%
Unknown 6 32%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 26%
Agricultural and Biological Sciences 2 11%
Medicine and Dentistry 2 11%
Immunology and Microbiology 1 5%
Chemistry 1 5%
Other 0 0%
Unknown 8 42%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 May 2014.
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#20,229,658
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Outputs from Methods in molecular biology
#9,863
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#193,267
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Outputs of similar age from Methods in molecular biology
#95
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