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関連する概念動画

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...
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...
Master Transcription Regulators02:23

Master Transcription Regulators

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...
Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of homologous...
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved DNA...

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Updated: May 25, 2026

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
10:10

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries

Published on: March 31, 2019

進化的に組み立てられたシス調節モジュールは,ヒトのシリオパシーの場所にある.

Jeong Ho Lee1, Jennifer L Silhavy, Ji Eun Lee

  • 1Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, USA.

Science (New York, N.Y.)
|January 28, 2012
PubMed
まとめ

非対等な遺伝子であるTMEM138とTMEM216は,配列の同位性がないにもかかわらず,ジョーベルト症候群を引き起こす機能的なクラスタを形成する. 彼らの協調的な発現は,プライマリーシリアの発達における細胞機能にとって極めて重要です.

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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
07:26

Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis

Published on: January 31, 2025

関連する実験動画

Last Updated: May 25, 2026

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
10:10

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries

Published on: March 31, 2019

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07:07

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

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07:26

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科学分野:

  • 遺伝学 遺伝学とは
  • 発達生物学 発達生物学について
  • 進化生物学の進化生物学について

背景:

  • 非並行性遺伝子は,哺乳類の機能を共有することはめったにありません.
  • ジョーベルト症候群は,多様な遺伝的原因を持つヒトのシリオパシーです.

研究 の 目的:

  • ジュベルト症候群におけるTMEM138とTMEM216の機能的関係を調査する.
  • これらの遺伝子の進化的配列と規制メカニズムを探求する.

主な方法:

  • 人間の患者における遺伝子変異分析.
  • 比較ゲノミクスは,遺伝子配列と規制要素を研究する.
  • 膀輸送におけるタンパク質機能を評価するための細胞測定法.

主要な成果:

  • TMEM138またはTMEM216の変異は,区別がつかないジョーベルト症候群の現象型を引き起こす.
  • TMEM138とTMEM216は,同質性がないにもかかわらず,ヘッド・トゥ・テールで並んでおり,共同調節されています.
  • 保存されたインタージェニックの調節要素は,それらの協調表現を制御する.
  • これらの遺伝子は,小胞状の輸送で,原始的シリアへの相互依存的な役割を果たします.

結論:

  • 非並行性遺伝子は,進化の過程で,共同の規制要素を持つ機能的なクラスターを形成することができる.
  • TMEM138とTMEM216の調整された発現は,シリオゲネシスとジュベルト症候群の予防に不可欠です.