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Related Concept Videos

Protein Families02:47

Protein Families

16.9K
Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
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Protein Families02:47

Protein Families

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Gene Families01:57

Gene Families

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Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
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Gene Families01:57

Gene Families

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Transcription01:10

Transcription

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Overview
Transcription is the process of synthesizing RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene sequence. Additionally, many other proteins and regulatory sequences are involved in the proper synthesis of messenger RNA (mRNA). Regulation of transcription is responsible for the differentiation of all the different types of cells and often for the proper cellular response to environmental signals.
Transcription Can Produce Different Kinds...
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Master Transcription Regulators02:23

Master Transcription Regulators

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Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
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Related Experiment Video

Updated: Feb 3, 2026

Nuclei Isolation from Fresh Frozen Brain Tumors for Single-Nucleus RNA-seq and ATAC-seq
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Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon.

Kristoffer Sahlin1, Marta Tomaszkiewicz2, Kateryna D Makova3,4,5

  • 1Department of Computer Science and Engineering, Pennsylvania State University, University Park, PA, 16802, USA.

Nature Communications
|November 4, 2018
PubMed
Summary
This summary is machine-generated.

IsoCon accurately sequences complex gene families using long reads. This method precisely identifies novel gene isoforms, advancing our understanding of genome evolution and diseases.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Vertebrate genomes contain numerous multigene families with variable gene copies and isoforms.
  • Current sequencing methods struggle to precisely reconstruct transcripts and assign isoforms in highly similar gene families.

Purpose of the Study:

  • To present IsoCon, a novel high-precision method for analyzing multigene families.
  • To accurately reconstruct end-to-end transcripts and assign alternatively spliced isoforms.

Main Methods:

  • Utilized long PacBio Iso-Seq reads for high-precision transcript sequencing.
  • Developed IsoCon to specifically address challenges in sequencing highly similar gene families.

Main Results:

  • IsoCon demonstrated superior performance over existing methods on experimental and simulated data.
  • Identified an unprecedented number of novel gene isoforms within Y chromosome ampliconic gene families.

Conclusions:

  • IsoCon enables precise analysis of multigene family structures.
  • Facilitates deeper understanding of genome evolution and its links to human diseases.