An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene

  title={An expressed pseudogene regulates the messenger-RNA stability of its homologous coding gene},
  author={Shinji Hirotsune and Noriyuki Yoshida and Amy Chen and Lisa J. Garrett and Fumihiro Sugiyama and Satoru Takahashi and Ken‐ichi Yagami and Anthony Wynshaw-Boris and Atsushi Yoshiki},
A pseudogene is a gene copy that does not produce a functional, full-length protein. The human genome is estimated to contain up to 20,000 pseudogenes. Although much effort has been devoted to understanding the function of pseudogenes, their biological roles remain largely unknown. Here we report the role of an expressed pseudogene—regulation of messenger-RNA stability—in a transgene-insertion mouse mutant exhibiting polycystic kidneys and bone deformity. The transgene was integrated into the… 

A new role for expressed pseudogenes as ncRNA: regulation of mRNA stability of its homologous coding gene

A mutant mouse generated in a course of making a transgenic line that exhibited interesting heterozygote phenotypes provided a clue to uncover a unique role of expressed pseudogenes, demonstrating a novel and specific regulatory role of an expressed pseudogene as well as functional significance for noncoding RNAs.

Transcribed processed pseudogenes in the human genome: an intermediate form of expressed retrosequence lacking protein-coding ability

The transcribed processed pseudogene (TPΨg), which is disabled but nonetheless transcribed, is identified and is unlike other PΨgs and processed genes in the following ways: (i) they do not show a significant tendency to either deposit on or originate from the X chromosome; (ii) only 5% of human TPΩgs have potential orthologs in mouse; this latter finding indicates that the vast majority of TPάgs is lineage specific.

Regulating Gene Expression through RNA Nuclear Retention

Functional characterization of a PHF8 processed pseudogene in the mouse genome

The presence of PHf8-ps, a PHF8 retrotransposed pseudogene in the mouse genome, which has no disruptions in its coding sequence is reported and it is shown that this pseudogene was specifically transcribed in testis and can produce a Phf7-ps protein in vivo.

Pseudogenes: pseudo-functional or key regulators in health and disease?

The ways in which Pseudogenes exert their effect on coding genes are described and the role of pseudogenes in the increasingly complex web of noncoding RNA that contributes to normal cellular regulation is explored.

Pseudogenes as regulators of biological function.

This chapter defines pseudogenes, describes the evidence that they are transcribed into non-coding RNAs and outlines the mechanisms by which they are able to influence the machinery of the eukaryotic cell.

Pseudo–Messenger RNA: Phantoms of the Transcriptome

A large class of non-standard but potentially functional transcripts that are likely to encode genetic information and effect biological processes in novel ways are surveyed, implying fundamental limits to the goal of annotating all functional elements at the genome sequence level.

Assessing the genomic evidence for conserved transcribed pseudogenes under selection

Through evolutionary analysis, the genomic evidence for functional human transcribed pseudogenes of potential functional importance is assessed, and 68 human TPAs that are syntenically conserved in at least two other mammals are identified.

The putatively functional Mkrn1-p1 pseudogene is neither expressed nor imprinted, nor does it regulate its source gene in trans

It is shown that 5’ Mkrn1-p1 is fully methylated on both alleles, a pattern indicative of silenced chromatin, and that Mkrn2- p1 is not transcribed and therefore cannot stabilize Mkrn 1 transcripts in trans, which invalidates the data upon which the pseudogene trans-regulation model is based and strongly supports the view that mammalian pseudogenes are evolutionary relics.

Nonneutral evolution of the transcribed pseudogene Makorin1-p1 in mice.

It is shown that Makorin1-p1 originated after the separation of Mus and Rattus but before the divergence of M. musculus and M. pahari, illustrating the potential of using evolutionary analysis to identify pseudogenes from genome sequences.



Processed pseudogenes: characteristics and evolution.

  • E. Vanin
  • Biology
    Annual review of genetics
  • 1985
It is suggested that all the transcripts that gave rise to these pseudogenes were actually produced in the germ line cell, and that at least one processed pseudogene, the human DHFR psi 1, has been formed so recently that it is polymorphic.

Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22.

The main populations and clusters of pseudogenes on chromosomes 21 and 22 are determined, and it is found that chromosome 22 pseudogene population is dominated by immunoglobulin segments, which have a greater rate of disablement per amino acid than the other pseudogene populations and are also substantially more diverged.

Nature and structure of human genes that generate retropseudogenes.

This analysis compared the structure and expression of genes with or without known retropseudogenes to reject previous hypotheses that widely expressed genes are GC rich, and suggest that genes with a wide tissue distribution are GC poor.

Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.

It is proposed that the germ line elements at the 15q11-q13 IC mediate their effects through the candidate heterochromatin-forming DNA identified in this study, which provides a mechanism for spreading of the imprinting signal.

Role of Interleukin‐6 in Uncoupling of Bone In Vivo in a Human Squamous Carcinoma Coproducing Parathyroid Hormone‐Related Peptide and Interleukin‐6

  • Y. NagaiH. Yamato E. Ogata
  • Biology, Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 1998
In vivo evidence is provided suggesting that in tumors coproducing IL‐6 and PTHrP, IL‐ 6 is involved not only in the acceleration of osteoclastic bone resorption but also, at least in part, in the suppression of osteoblastic functions in HHM syndrome.

The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system.

The ancient origin of MKRN1, high degree of conservation, and expression pattern suggest important developmental and functional roles for this gene and its expressed family members.