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Human branch point consensus sequence is yUnAy.

Kaiping Gao1, Akio Masuda, Tohru Matsuura

  • 1Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan.

Nucleic Acids Research
|February 21, 2008
PubMed
Summary
This summary is machine-generated.

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Human introns have a degenerate branch point sequence (BPS) that is primarily adenine (A), unlike yeast. This finding clarifies the less understood human splicing mechanism.

Area of Science:

  • Molecular Biology
  • Genetics
  • RNA Splicing

Background:

  • Yeast branch point sequences (BPS) are highly conserved (UACUAAC).
  • Human BPS are less characterized and considered degenerate.
  • In vitro studies of human BPS are limited.

Purpose of the Study:

  • To characterize the human branch point sequence (BPS) in detail.
  • To explore the in vitro nature of human BPS.
  • To understand the variability and conservation of human BPS.

Main Methods:

  • Sequencing of 367 lariat RT-PCR products from 52 human introns.
  • Analysis of nucleotide composition at the branch point.
  • Determination of branch point location relative to the 3' end of introns.

Related Experiment Videos

  • Assessment of polypyrimidine tract length.

    • Main Results:

    • The human consensus BPS is identified as yUnAy, with a highly conserved adenine at the branch point.
    • Adenine (A) constitutes 92.3% of branch points; other nucleotides are rare.
    • Branch points are typically located 21-34 nucleotides upstream of the 3' intron end (83% of cases).
    • The polypyrimidine tract length varies from 4-24 nucleotides downstream of the BPS.

    Conclusions:

    • Human BPS are more degenerate than previously assumed.
    • Human BPS recognition likely involves cooperation with the polypyrimidine tract and other splicing elements.
    • This study provides a refined model for human pre-mRNA splicing initiation.