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Related Concept Videos

X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
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Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.

R Shemirani1,2, M H Le2,3,4, Y Nakano1,5

  • 1Department of Orofacial Sciences, School of Dentistry, University of California, San Francisco, CA, USA.

Journal of Dental Research
|August 11, 2023
PubMed
Summary

Mutations in amelogenin gene exon4 and exon5 disrupt exon4 splicing, affecting microRNA production and contributing to X-linked amelogenesis imperfecta. This impacts enamel formation and tooth development.

Keywords:
RNA splicing factorsalternative splicingameloblastsamelogenesisdental enameldevelopmental defects of enamel

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Amelogenin is vital for tooth enamel formation.
  • Mutations in X-chromosomal amelogenin cause X-linked amelogenesis imperfecta (AI).
  • Alternative splicing of amelogenin pre-mRNA generates miR-exon4, implicated in enamel and bone development.

Purpose of the Study:

  • Investigate the impact of X-linked AI-associated mutations in amelogenin exons 4 and 5 on exon 4 splicing and miR-exon4 formation.
  • Identify regulatory factors involved in amelogenin exon 4 and 5 splicing.

Main Methods:

  • Amelogenin minigene transfection in HEK-293 cells to study splicing.
  • In silico analysis to predict splicing factors.
  • Electrophoretic mobility shift assay (EMSA) to confirm protein-RNA interactions.
  • Transfection into LS8 ameloblastic cells to assess target gene expression.

Main Results:

  • Specific mutations (c.120T>C, c.152C>T, c.155C>G, c.155delC) in amelogenin exons 4 and 5 significantly altered exon 4 splicing and reduced miR-exon4 production.
  • SRSF2 and SRSF5 were identified as key splicing factors for exon 4 and 5, respectively, with mutations affecting their binding.
  • Mutations led to altered expression of miR-exon4 targets, including upregulation of Prkch.

Conclusions:

  • Exon 4 splicing is critical for miR-exon4 production.
  • Mutations causing X-linked AI disrupt this splicing process, impacting miR-exon4 levels.
  • Altered miR-exon4 production represents an additional pathogenic mechanism in X-linked AI, contributing to enamel defects.