Skip to content
Research Article Open access CC BY 4.0

Jumping Genes-“The Other Half of the Human Genome” and the Missing Heritability Conundrum of Human Genetic Disorders

Deepu Pandita, Anu Pandita

Biotechnology Journal International · pp. 1–18 · Published 6 Jan 2016

10.9734/BBJ/2016/13904

Abstract

Almost 45% of the human genome is composed of transposons with about 4 million copies. The retrotransposons constitute 42% of the human genome with active families (Long Interspersed Nuclear Element, SINE-R, VNTR, and Alu) allied with insertional mutagenesis and diseases. There are >500,000 L1 copies which represent ~17% with less than 100 active copies and are inserted in the human genome; >1 million Alu copies referred to as “a parasite’s parasite” and ~3,000 SVA (SINE-R, VNTR, and Alu) copies. Some Human Endogenous Retroviruses are still active in humans. Nonactive DNA transposons embody 3% of the human genome. TEs are known to engender genomic instability and reorganize gene expression system in germline as well as the somatic cells. The amended retrotransposon expression or function appears to be associated with stress, alcohol, neurodegeneration and aging. This review highlights recent findings on the role of jumping genes in human genetic disorders like cancer, autoimmune and neurological diseases.

TE: Transposable elements human genome human genetic diseases long interspersed nuclear element human endogenous retrovirus SVA: SINE-R VNTR Alu

References (76)

  1. 1 L1 retrotransposition in human neural progenitor cells [DOI]
  2. 2 Somatic retrotransposition alters the genetic landscape of the human brain [DOI]
  3. 3 Gene Coexpression Networks in Human Brain Identify Epigenetic Modifications in Alcohol Dependence [DOI]
  4. 4 Endogenous retroviruses in the human genome sequence. [DOI]
  5. 5 LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes? [DOI]
  6. 6 Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome [DOI]
  7. 7 A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease [DOI]
  8. 8 Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells [DOI]
  9. 9 Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy [DOI]
  10. 10 All y’all need to know ‘bout retroelements in cancer [DOI]
  11. 11 Evidence that duplications of 22q11.2 protect against schizophrenia [DOI]
  12. 12 Expression and Activation by Epstein Barr Virus of Human Endogenous Retroviruses-W in Blood Cells and Astrocytes: Inference for Multiple Sclerosis [DOI]
  13. 13 Environmental influence on L1 retrotransposons in the adult hippocampus [DOI]
  14. 14 Epigenetic silencing of engineered L1 retrotransposition events in human embryonic carcinoma cells [DOI]
  15. 15 Genome Mosaicism—One Human, Multiple Genomes [DOI]
  16. 16 The activation of human endogenous retrovirus K (HERV-K) is implicated in melanoma cell malignant transformation [DOI]
  17. 17 Endogenous Retrovirus Type W GAG and Envelope Protein Antigenemia in Serum of Schizophrenic Patients [DOI]
  18. 18 A revised nomenclature for transcribed human endogenous retroviral loci [DOI]
  19. 19 Microsatellite alterations as clonal markers for the detection of human cancer. [DOI]
  20. 20 A Human Endogenous Retroviral Superantigen as Candidate Autoimmune Gene in Type I Diabetes [DOI]
  21. 21 Pancreas in recent onset insulin-dependent diabetes mellitus. Changes in HLA, adhesion molecules and autoantigens, restricted T cell receptor V beta usage, and cytokine profile. [DOI]
  22. 22 Interferon-α-Induced Endogenous Superantigen [DOI]
  23. 23 The Human Endogenous Retrovirus Envelope Glycoprotein, Syncytin-1, Regulates Neuroinflammation and Its Receptor Expression in Multiple Sclerosis: A Role for Endoplasmic Reticulum Chaperones in Astrocytes [DOI]
  24. 24 Insertional polymorphisms: a new lease of life for endogenous retroviruses in human disease [DOI]
  25. 25 The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion [DOI]
  26. 26 Human endogenous retrovirus-K18 Env as a risk factor in multiple sclerosis [DOI]
  27. 27 A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element [DOI]
  28. 28 Viruses and schizophrenia: a focus on herpes simplex virus.
  29. 29 Reduced expression of human endogenous retrovirus (HERV)-W GAG protein in the cingulate gyrus and hippocampus in schizophrenia, bipolar disorder, and depression [DOI]
  30. 30 Comprehensive Analysis of Human Endogenous Retrovirus Group HERV-W Locus Transcription in Multiple Sclerosis Brain Lesions by High-Throughput Amplicon Sequencing [DOI]
  31. 31 Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy [DOI]
  32. 32 Human endogenous retroviruses and ADHD [DOI]
  33. 33 Detection of a Human Intracisternal A-Type Retroviral Particle Antigenically Related to HIV [DOI]
  34. 34 Direct evidence for the expression of multiple endogenous retroviruses in the synovial compartment in rheumatoid arthritis [DOI]
  35. 35 Possible role of DNA hypomethylation in the induction of SLE: relationship to the transcription of human endogenous retroviruses.
  36. 36 Detection of two Alu insertions in the CFTR gene [DOI]
  37. 37 An Alu retrotransposition‐mediated deletion of CHD7 in a patient with CHARGE syndrome [DOI]
  38. 38 Somatic transposition in the brain has the potential to influence the biosynthesis of metabolites involved in Parkinson’s disease and schizophrenia [DOI]
  39. 39 A conserved idiotype and antibodies to retroviral proteins in systemic lupus erythematosus. [DOI]
  40. 40 Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. [DOI]
  41. 41 Lack of immune responses against multiple sclerosis–associated retrovirus/human endogenous retrovirus W in patients with multiple sclerosis [DOI]
  42. 42 An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II [DOI]
  43. 43 Schizophrenia: A genetic perspective (Review) [DOI]
  44. 44 Differential Display Detects Host Nucleic Acid Motifs Altered in Scrapie-Infected Brain [DOI]
  45. 45 Discovery of a Novel Murine Type C Retrovirus by Data Mining [DOI]
  46. 46 DNA Methylation, Epigenetics and Metastasis [DOI]
  47. 47 Study of azoospermia factor-a deletion caused by homologous recombination between the human endogenous retroviral elements and population-specific alleles in Japanese infertile males [DOI]
  48. 48 Viral induction, transmission and apoptosis among cells infected by a Human Intracisternal A-type retrovirus [DOI]
  49. 49 Transposable elements occur more frequently in autism-risk genes: Implications for the role of genomic instability in autism [DOI]
  50. 50 Extensive somatic L1 retrotransposition in colorectal tumors [DOI]
  51. 51 Initial sequencing and analysis of the human genome [DOI]
  52. 52 Epidemiology of mucopolysaccharidoses [DOI]
  53. 53 Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition [DOI]
  54. 54 Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons [DOI]
  55. 55 Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia [DOI]
  56. 56 RNA-Seq of Human Neurons Derived from iPS Cells Reveals Candidate Long Non-Coding RNAs Involved in Neurogenesis and Neuropsychiatric Disorders [DOI]
  57. 57 Human endogenous retrovirus type W envelope expression in blood and brain cells provides new insights into multiple sclerosis disease [DOI]
  58. 58 Estimating the retrotransposition rate of human Alu elements [DOI]
  59. 59 DNA Methylation in Repetitive Elements and Post-Traumatic Stress Disorder: A Case–Control Study of US Military Service Members [DOI]
  60. 60 Retrotransposition of gene transcripts leads to structural variation in mammalian genomes [DOI]
  61. 61 L1 and HERV-W retrotransposons are hypomethylated in human ovarian carcinomas. [DOI]
  62. 62 Screening for a BRCA2 Rearrangement in High-Risk Breast/Ovarian Cancer Families: Evidence for a Founder Effect and Analysis of the Associated Phenotypes [DOI]
  63. 63 Implication of the env Gene of the Human Endogenous Retrovirus W Family in the Expression of BDNF and DRD3 and Development of Recent-Onset Schizophrenia [DOI]
  64. 64 LINE-1 Retrotransposition in the Nervous System [DOI]
  65. 65 Human Endogenous Retrovirus Family HERV-K(HML-2) RNA Transcripts Are Selectively Packaged into Retroviral Particles Produced by the Human Germ Cell Tumor Line Tera-1 and Originate Mainly from a Provirus on Chromosome 22q11.21 [DOI]
  66. 66 Association of Human Endogenous Retrovirus K-18 Polymorphisms With Type 1 Diabetes [DOI]
  67. 67 Increase in Human Endogenous Retrovirus HERV‐K (HML‐2) Viral Load in Active Rheumatoid Arthritis [DOI]
  68. 68 The distribution of human endogenous retrovirus K-113 in health and autoimmune diseases in Poland [DOI]
  69. 69 HERV-K Hypomethylation in Ovarian Clear Cell Carcinoma Is Associated With a Poor Prognosis and Platinum Resistance [DOI]
  70. 70 Induction of Retrovirus Particles in Human Testicular Tumor (Tera-1) Cell Cultures: An Electron Microscopic Study 2 [DOI]
  71. 71 Sequence Analysis of Human Endogenous Retrovirus Clone 4-1 in Systemic Lupus Erythematosus [DOI]
  72. 72 Expression Profiles of Endogenous Retroviruses in Old World Monkeys [DOI]
  73. 73 AnAluelement retroposition in two families with Huntington disease defines a new activeAlusubfamily [DOI]
  74. 74 Mobile elements create structural variation: Analysis of a complete human genome [DOI]
  75. 75 Beyond the Qs in the polyglutamine diseases: Table 1. [DOI]
  76. 76 Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution [DOI]

Cited by 8

Omics Technology for the Promotion of Nutraceuticals and Functional Foods

Deepu Pandita, Anu Pandita · Frontiers in Physiology · 2022

Genomic approaches for phytoremediation of trace and hazardous metals

Deepu Pandita, Ramachandra Reddy Pamuru · Hazardous and Trace Materials in Soil and Plants · 2022

21st Century Virology: Critical Steps

Paul Shapshak · Global Virology III: Virology in the 21st Century · 2019

Sustainable Metabolic Engineering and Epigenetic Modulation

Satyajit Saurabh, Shilpi Kiran, Kumar Pranay · Nonthermal Food Processing, Safety, and Preservation · 2024

Showing 4 of 8 known citations — external sources report more than can currently be individually listed.

Article metrics

Real usage data collected on this platform.

20

Page views

0

PDF downloads

13

Outbound clicks

8

Citations

Views over time

Views by country

Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".

Traffic sources

Referring site, by host.

Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.