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Related Concept Videos

piRNA - Piwi-interacting RNAs02:57

piRNA - Piwi-interacting RNAs

PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
DNA-only Transposons02:57

DNA-only Transposons

DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
The donor site from where the transposon is excised is either degraded or...
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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Mouse In Vivo Placental Targeted CRISPR Manipulation
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Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth.

Jevon Plunkett1, Scott Doniger, Thomas Morgan

  • 1Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

BMC Medical Genomics
|December 28, 2010
PubMed
Summary

Gene variations in PLA2G4C may increase preterm birth risk. This phospholipase A isoform shows primate-specific evolution and is linked to prostaglandin levels, a key labor regulator.

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Murine Neural Plate Targeting by In Utero Nano-Injection (NEPTUNE) at Embryonic Day 7.5
10:49

Murine Neural Plate Targeting by In Utero Nano-Injection (NEPTUNE) at Embryonic Day 7.5

Published on: February 14, 2022

Area of Science:

  • Genomics
  • Reproductive Biology
  • Evolutionary Medicine

Background:

  • Human birth onset differs endocrinologically from non-primate mammals.
  • Higher primate-specific gene evolution may explain these differences.
  • Investigating genes linked to human preterm birth is crucial for global health.

Purpose of the Study:

  • To identify primate-specific genes potentially involved in human birth timing.
  • To examine the association between PLA2G4C gene variations and preterm birth risk.

Main Methods:

  • Comparative genomics identified PLA2G4C as a human-accelerated gene involved in prostaglandin biosynthesis.
  • Genotyped 8 single nucleotide polymorphisms (SNPs) in PLA2G4C across diverse US maternal cohorts.
  • Analyzed associations between SNPs and preterm birth in US Hispanic, White, and Black mothers.

Main Results:

  • PLA2G4C exhibited primate-specific genomic element duplication.
  • Specific SNPs in PLA2G4C (rs8110925, rs2307276, rs11564620) showed significant associations with preterm birth in certain ethnic groups.
  • One SNP (rs11564620) correlated with elevated thromboxane metabolite levels, suggesting altered PLA2G4C activity.

Conclusions:

  • Variation in PLA2G4C may impact preterm birth risk.
  • Increased prostaglandin levels due to PLA2G4C variants could influence labor onset.
  • PLA2G4C represents a potential target for understanding and managing preterm birth.