Textbook of human reproductive genetics / edited by Stéphane Viville, Karen D. Sermon.

Format:

Book

Contributor:

Viville, Stéphane, editor.

Sermon, Karen, 1964- editor.

Series:

Cambridge medicine (Series)

Cambridge medicine

Language:

English

Subjects (All):

Human reproduction.

Physical Description:

1 online resource (viii, 246 pages) : digital, PDF file(s).

Edition:

Second edition.

Place of Publication:

Cambridge : Cambridge University Press, 2023.

Summary:

A basic understanding of human genetics is vital for all those working in the field of assisted human reproduction. Genetic makeup can hamper reproduction and insight into this is making genetic diagnosis and counselling increasingly important. This fully updated textbook continues the clear structure of the original edition, beginning with a chapter on the basics of genetics and cytogenetics. Genetic causes of infertility and the effect of epigenetics and transposons on fertility are discussed in detail. Several new chapters are included in this edition, reflecting the advances of the field, including preconception genetic analysis and screening in IVF and mitochondrial genetics. Combining genetics, reproductive biology and medicine, this is an essential text for practitioners in reproductive medicine and geneticists involved in the field looking to improve their knowledge of the subject and provide outstanding patient care.

Contents:

Cover

Half-title

Title page

Copyright information

Contents

List of Contributors

Chapter 1 Basic Genetics and Cytogenetics: A Brief Reminder

1.1 Introduction

1.2 The Organization of the Human Genome

1.2.1 The Basic Building Material: DNA

1.2.2 DNA Is Organized in Chromosomes

1.2.3 The Functional Genetic Entity: The Gene

1.3 Making More Copies: The Cell Cycle

1.3.1 The Different Parts of the Cell Cycle

1.3.2 Passing on the Information: Mitosis

1.4 Making More Humans: Meiosis

1.5 From DNA to Protein: The Transcription and Translation Machinery

1.5.1 RNA Comes in Many Forms and Functions

1.5.2 Different RNAs Work Together to Translate DNA into Protein

1.5.2.1 Genetic Code

1.5.2.2 Translation Machinery

1.6 Behold the Genome: Tools in Human Genetics

1.6.1 The Big View: Cytogenetics

1.6.1.1 Know Your Classics: G-Banding and Karyotypes

1.6.1.2 Fluorescent In Situ Hybridization: Count the Dots

1.6.2 The Detailed View: DNA and RNA Analysis

1.6.2.1 Polymerase Chain Reaction

1.6.2.2 Sequencing

1.6.2.3 Quantitative Real-Time Reverse Transcription PCR

1.6.3 The Holistic View: Modern Tools in Genetic Analysis

1.6.3.1 Microarrays

1.6.3.2 Whole-Genome Sequencing

1.7 Causes and Effects in Human Genetic Disease

1.7.1 Chromosomal Abnormalities

1.7.1.1 Numerical Abnormalities

1.7.1.2 Chromosomal Rearrangements

1.7.2 Monogenic Diseases

1.7.2.1 Modes of Transmission

1.7.2.2 Mutation Types

References

Chapter 2 Application of Whole-Genome Technologies to Assisted Reproductive Treatment

2.1 Introduction

2.2 Whole-Genome Amplification

2.3 Single Nucleotide Polymorphism Array

2.4 Next-Generation Sequencing

2.5 Beyond Whole-Genome Analysis

2.5.1 Transcriptomics as a Tool for Assessing Embryo Competence.

2.5.2 Single-Cell Epigenomic Technologies to Uncover Embryonic Genome Regulation

2.5.3 Single-Cell Multiomics

Acknowledgments

Chapter 3 Meiosis: How to Get a Good Start in Life

3.1 Introduction

3.2 Principles of Chromosome Segregation at Mitosis and Meiosis

3.3 Key Events in Meiosis

3.3.1 Stage-Specific Events during Progression through Prophase I of Meiosis

3.3.2 The Synaptonemal Complex: Framework for the Recombination Process

3.3.3 Molecular Framework for Crossover between Homologs

3.3.4 Reassortment of Parental Homologs at Anaphase I

3.3.5 New Assortment of Alleles in Chromatids by Recombination

3.4 Origin and Impact of Meiotic Disturbances

3.4.1 Presence, Numbers, and Distribution of Exchanges

3.4.2 Sexual Dimorphism in Spindle Formation

3.4.3 Age and Meiotic Errors

3.4.4 Mutations and Rearrangements Affecting Meiosis

3.4.5 Sex-Specific Differences in Entry and Completion of Meiosis

3.4.6 Constitutional Conditions, Exposures, and Lifestyle

3.5 Conclusions and Future Perspectives

Chapter 4 Chromosomes in Early Human Embryo Development: Incidence of Chromosomal Abnormalities, Underlying Mechanisms, and Consequences for Diagnosis and Development

4.1 Introduction

4.2 Chromosome Abnormalities in Human Preimplantation Embryos

4.2.1 Contribution of Meiotic Errors to Embryo Aneuploidy and Consequences for Embryo Development

4.2.2 Incidence of Aneuploidy and Mosaicism in Preimplantation Embryos

4.2.3 Mitotic Mechanisms Leading to Chromosomal Abnormalities

4.3 Molecular Mechanisms Regulating Chromosome Segregation during Preimplantation Embryo Development

4.3.1 The First Embryonic Cleavage Divisions Differ from Normal Mitotic Divisions

4.3.2 Fertilization and the Transition from Maternal to Embryonic Control.

4.3.3 The Human Sperm Cell Contributes the Centrosome to Embryonic Spindle Formation

4.3.4 Compromised Functionality of the Spindle Assembly Checkpoint?

4.3.5 Distinct Constitution of the Chromosomal Passenger Complex during the Cleavage Divisions

4.4 Clinical Implications of the High Rate of Chromosomal Abnormalities in IVF Embryos

4.4.1 Impact of IVF Procedures on Chromosome Abnormalities and Mosaicism

4.4.2 Implications of Chromosomal Mosaicism for Preimplantation Genetic Testing for Aneuploidies

4.5 Impact of Chromosomal Mosaicism on Embryo Development and Implantation

4.5.1 Development from the Cleavage Stage to the Peri-implantation Blastocyst

4.5.2 The Incidence of Chromosomal Mosaicism in Chorionic Villi and Amniotic Fluid during Prenatal Diagnosis

4.5.3 Noninvasive Detection of Chromosomal Mosaicism Using Cell-Free DNA Screening

4.5.4 Chromosomal Mosaicism in the Term Placenta

4.5.5 Chromosomal Mosaicism in Chorionic Villi and Placentas of Spontaneous versus IVF Pregnancies

4.5.6 Chromosomal Mosaicism in Spontaneous Abortions

4.5.7 Do We Underestimate Chromosomal Mosaicism beyond the Preimplantation Embryo Stage?

4.6 Summary and Conclusions

Chapter 5 DNA Is Not the Whole Story: Transgenerational Epigenesis and Imprinting

5.1 Introduction

5.2 DNA Is Not the Whole Story

5.3 Establishment of Genomic Imprints

5.3.1 Nature of an Imprint

5.3.2 Enzymes Involved in Imprint Establishment

5.3.3 Auxiliary Factors

5.3.4 Acquisition at Different Times

5.4 Inheritance and Maintenance of Genomic Imprints

5.4.1 Enzymes Involved in Imprint Maintenance

5.4.2 Features of Imprinted DMDs

5.5 Consequences of Inherited Methylation: Monoallelic Gene Expression

5.5.1 Insulator Model: H19/Igf2 Imprinting

5.5.2 Noncoding RNA Model: Kcnq1 Locus.

5.6 Interplay between Chromatin Modifications and DNA Methylation

5.7 Abnormalities of Imprinting

5.8 Preimplantation Reprogramming

5.8.1 Global DNA Methylation and Pluripotency

5.8.2 Model of Active Demethylation

5.8.3 Model of Passive Demethylation

5.9 Erasure of Parent-Specific Imprints in Primordial Germ Cells

5.10 Conclusions

Chapter 6 Genes Are Not the Whole Story: Retrotransposons as New Determinants of Male Fertility

6.1 Introduction

6.2 Human Transposable Elements

6.2.1 LTR Elements

6.2.2 Non-LTR Elements

6.3 Control Mechanisms of Retrotransposon Activity

6.3.1 Transcriptional Control

6.3.2 Post-Transcriptional Control

6.3.3 Integration Control

6.4 Retrotransposons and Fertility: What We Learned from Animal Models

6.5 Transposons and Fertility in Humans: What We Suppose and What We Really Know

6.5.1 Developmental Kinetics of Human Spermatogenesis

6.5.2 Transposon Control and Sperm Criteria

6.5.3 Situations at Risk: Endocrine Disruptors and Synthetic Gametes

6.6 Concluding Remarks

Chapter 7 Chromosomal Causes of Infertility

7.1 Chromosomal Causes of Male Infertility

7.1.1 Numerical Sex Chromosome Abnormalities

7.1.1.1 Klinefelter Syndrome

7.1.1.2 47,XYY Karyotype

7.1.2 Y Chromosome Microdeletions

7.1.2.1 AZFa

7.1.2.2 AZFb

7.1.2.3 AZFc

7.1.3 46,XX Male Syndrome or Testicular Disorder of Sex Development

7.1.4 Balanced Chromosome Rearrangements

7.1.4.1 Reciprocal Translocations, Inversions

7.1.4.2 Complex Chromosome Rearrangements

7.1.4.3 Robertsonian Translocations

7.2 Chromosomal Causes of Female Infertility

7.2.1 Sex Chromosome Abnormalities

7.2.1.1 Turner Syndrome

7.2.1.2 47,XXX Karyotype

7.2.1.3 X-Chromosome Structural Rearrangements.

7.2.2 Autosomal Structural Rearrangements

7.2.3 46,XY Female (Swyer Syndrome)

7.2.4 Submicroscopic DNA Copy Number Alterations

7.3 Practical Clinical Approach

Chapter 8 Genetics of Human Male Infertility: The Quest for Diagnosis and Treatment

8.1 Introduction

8.2 Identification of New ''Infertility'' Genes

8.2.1 Recruitment of Patients (Step 1)

8.2.2 Computational Analysis: Data Processing and Bioinformatics Analysis (Step 5)

8.2.3 Biological Validation (Step 6)

8.3 Genes Involved in Male Infertility

8.4 Analysis of Gene Panels as a New Diagnostic Tool in Assisted Reproductive Technology

8.4.1 Obstructive Azoospermia

8.4.2 Spermatogenetic Failure (Nonobstructive Azoospermia or Oligozoospermia)

8.4.2.1 Karyotype

8.4.2.2 Yq Microdeletions

8.4.2.3 Spermatogenic Failure ''Gene Panel'' Analysis

8.4.3 Teratozoospermia/Asthenozoospermia

8.5 Conclusion and Future Trends

Chapter 9 Genetics of Human Female Infertility

9.1 Introduction

9.2 Genes That Disrupt Ovarian Development

9.3 Hypothalamic-Pituitary Genetic Pathology and Ovarian Function

9.4 Meiosis, DNA Damage Repair Genes and Reproductive Lifespan

9.5 X Chromosome and Ovarian Development

9.6 Genetic Causes of Fertilization Failure

9.7 Postfertilization Preimplantation Embryonic Failure

9.8 Postimplantation Pathologies Resulting in Infertility and Recurrent Pregnancy Loss

9.9 Concluding Remarks and Future Perspectives

Chapter 10 Preconception Genetics Analysis/Screening in IVF

10.1 Introduction

10.2 Ethnicity-Based Carrier Screening or Population-Specific Screening

10.2.1 Population Screening for Hemoglobinopathies

10.2.2 Program for the Prevention of Tay-Sachs Disease

10.2.3 Consanguinity As Risk Factor for Recessive Conditions.

10.2.4 The Israeli National Carrier Screening Program.

Notes:

Title from publisher's bibliographic system (viewed on 16 Dec 2022).

Includes bibliographical references and index.

ISBN:

9781009197694

100919769X

9781009197687

1009197681

9781009197700

1009197703