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Related Concept Videos

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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Related Experiment Video

Updated: May 25, 2026

HOX Loci Focused CRISPR/sgRNA Library Screening Identifying Critical CTCF Boundaries
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Published on: March 31, 2019

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

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
Summary

Nonparalogous genes TMEM138 and TMEM216, despite lacking sequence homology, form a functional cluster causing Joubert syndrome. Their coordinated expression is crucial for cellular function in primary cilia development.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Evolutionary Biology

Background:

  • Nonparalogous genes rarely share functions in mammals.
  • Joubert syndrome is a human ciliopathy with diverse genetic causes.

Purpose of the Study:

  • To investigate the functional relationship between TMEM138 and TMEM216 in Joubert syndrome.
  • To explore the evolutionary arrangement and regulatory mechanisms of these genes.

Main Methods:

  • Genetic mutation analysis in human patients.
  • Comparative genomics to study gene arrangement and regulatory elements.
  • Cellular assays to assess protein function in vesicular transport.

Main Results:

  • Mutations in TMEM138 or TMEM216 cause indistinguishable Joubert syndrome phenotypes.
  • TMEM138 and TMEM216, despite lacking homology, are arranged head-to-tail and co-regulated.
  • A conserved intergenic regulatory element controls their coordinated expression.
  • These genes play interdependent roles in vesicular transport to primary cilia.

Conclusions:

  • Nonparalogous genes can form functional clusters with shared regulatory elements during evolution.
  • Coordinated expression of TMEM138 and TMEM216 is essential for ciliogenesis and preventing Joubert syndrome.