Holoprosencephaly HPE is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes.
HPE has a prevalence of during embryogenesis andnewborn infants, and involves incomplete development and septation of midline structures in the central nervous system CNS with a broad spectrum of clinical severity.
At the mild end of the spectrum, findings may include microcephaly, mild hypotelorism, single maxillary central incisor and other defects Fig. This phenotypic variability also occurs between affected members of the same family. The molecular basis underlying HPE is not known, although teratogens, non-random chromosomal anomalies and familial forms with autosomal dominant and recessive inheritance have been described. Two of these mutations predict premature termination of the SHH protein, whereas the others alter highly conserved residues in the vicinity of the alpha-helix-1 motif or signal cleavage site.
Abstract Holoprosencephaly HPE is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. Publication types Research Support, Non-U. Gov't Research Support, U. Gov't, P.Before the rise of Robotnikthe conflict between these two species provided a vast backstory for the series while adding ample amounts of betrayal, loss and intrigue that could satisfy the voracious appetite of any comic reader.
To readers, this implication that Earth was the same planet as Mobius was huge, both because it added another layer of unseen backstory to Sonic's then-continuitybut even more so due to the fact that the Xorda had come to destroy the planet. The planet's inhabitants wanted to prove that this was all just an extreme case of mistaken identity.2019 3.0 ecodiesel specs
They lived on Mobius, not Earth, so the Xorda must have come to the wrong planet. Happily, they could still prove to the Xorda that these "humans" no longer existed, which would mean that there was no one upon which to enact any form of vengeance. Although Sonic later successfully staved off the Xorda's assault on Mobius, the real news was that Mobius was a future Earth populated by mutated, part-human creatures.
By Steven Blackburn 5 days ago. Share Share Tweet Email 0. Continue scrolling to keep reading Click the button below to start this article in quick view.There's a gene that's pivotal in not only separating your right brain from your left, but also in making sure that you have two, individual eyes.
That gene, and the protein it codes for, are both called Sonic Hedgehog. Here's how that happened. As the NIH somewhat wearily explains in their notes on the gene, "The official name of this gene is 'sonic hedgehog. If you're really bound and determined to avoid any sonics at all costs, you can use the gene's official symbol, the almost equally evocative SHH.
So, what happened? The sonic hedgehog gene was one of a set of three genes all called hedgehog genes, due to their somewhat spiky appearance. But the Harvard lab where SHH was uncovered wasn't full of videogame fans, instead it was a six year comics fan who was responsible. Harvard's Cliff Tabin, chair of their genetics department and the professor, whose lab was responsible for first cloning the sonic hedgehog gene, recounts that one of the lab's British post-docs, Robert Riddlepulled the name out of a comic book that his daughter brought over from the U.
At the time the videogame hadn't yet been released in the U.
By the time it was, the paper detailing their process was also just being published. As the importance of the gene began to better understood — and as Sonic the Hedgehog's videogame and then tv series really began to take off — many doctors and scientists suggested that the time had come for a change to the name.
So much so that the Human Genome Organization's Nomenclature Committee put it on a top 10 list of gene names that they wanted changed if for no other reason than to spare a doctor having to use the phrase "sonic hedgehog gene" in an explanation to a sick patient. The name, however, stuck and continues on today. Some of my other favorites include cheap date sensitivity to alcohol and ken and barbie genitalia formation.
SHH sonic hedgehog [ (chicken)]
Ria Misra. Share This Story. Get our newsletter Subscribe.Systems used to automatically annotate proteins with high accuracy:. Select item s and click on "Add to basket" to create your own collection here entries max. Manual assertion inferred from sequence similarity to i. Manual assertion based on experiment in i. ShhNp is active as a multimer By similarity. You are using a version of browser that may not display all the features of this website.
Please consider upgrading your browser. Basket 0. Your basket is currently empty. Sonic hedgehog protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence s displayed. Select a section on the left to see content. Sonic hedgehog protein N-product:. The several steps and mechanisms that permit controlled Shh dispersion and gradient formation remain controversial.
The ShhNC C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity resulting in the cleavage and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment ShhN. The protein is further modified by covalent addition of palmitate at the N-terminal of ShhN, resulting to the dual-lipidated Shh ShhNp.
ShhNp is firmly tethered to the cell membrane where it forms multimers. Further solubilization and release from the cell surface seem to be achieved through different mechanisms, including the interaction with DISP1 and SCUBE2, movement by lipoprotein particles, transport by cellular extensions called cytonemes or by proteolytic removal of both terminal lipidated peptides.
Once released, the fully processed Shh can signal within embryonic tissues both at short and long-range. Short name:. Alternative name s :. Sonic hedgehog protein N-product Short name:.Sonic The Hedgehog Speed Run in 9:14 (Any% World Record)
Name: SHH. Extracellular region or secreted extracellular region Source: Roslin Non-traceable author statement i Ref. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.
First detectable at stage 17 during the initiation of limb bud formation. From that point onwards, the expression pattern exactly matches the location of the zone of polarizing activity ZPA.
By retinoic acid.One experimental approach that is being explored for treating the condition involves investigating biological pathways involved in the early development of dopamine neurons.
By re-exposing the dopamine neurons to supportive, growth-encouraging proteins that are present during early development but absent or reduced in adulthoodresearchers hope to be able to rejeuvinate these cells and make them healthier. In a recent post, we discussed one such developmental supportive protein: Glial cell derived neurotrophic factor Click here to read more about this.
That protein is called Sonic Hedgehog. The humble fly Drosophila. Source: Ecolab. When it comes to the naming of genes, they have had a great deal of fun. A gene is a section of DNA that can be copied into RNA which may then provide the instructions for making a proteinand each gene has been given a name. Flies with genetic variation in this gene have longer than average lifespans Click her e to read more about this.
Source: Sciencemag. Another amusingly named gene is Cheap Date. Flies with a genetic mutation in this gene are very susceptible to alcohol Click here to read more about this.
There is also Ken and Barbie — genetic variations in this gene result in a lack of external genitalia Click here to read more about this. Like I said, fly genetists have a lot of fun. But one of the most popular gene names in all of biology is a gene called Sonic Hedgehog. First discovered in flies, the Hedgehog signaling pathway controls a wide range of developmental processes and is implicated in a variety of cancers.
In flies, there is only one hedgehog proteins, but in humans there is a family of three sonic, desert, and indian. This extreme effect on development points towards a major role for hedgehog proteins in the development of organisms though, and in mammals, sonic hedgehog is a major player. A receptor is like a switch, which is waiting for the right protein to come along and turn it on.
Patched is sitting on the outer surface of a cell waiting for Sonic to come along and activate it.
The Strange History Of How A Gene Was Named "Sonic Hedgehog"
Sonic hedgehog signalling. Source: Cincancerres. In the image above, in panel B there are a number of drugs that are named as inhibitors of this pathway all of them acting as inhibitors, noting the role Sonic Hedgehog plays in several cancers.
At the time the videogame was not available in the U. Source: Youtube. Basically, clinicians were having a hard time explaining to patients that their conditions were associated with genes that had silly names. Ivo Robotnik. Source: Wikipedia.
The bulk of the dopamine generated by your brain is produced by a population of dopamine producing neurons in a region of the midbrain called the substantia nigra. The loss of these dopamine neurons is one of the cardinal features of the Parkinsonian brain. And as you can see in the image below, the Parkinsonian brain has less dark pigmented cells in the substantia nigra region of the midbrain. The dark pigmented dopamine neurons in the substantia nigra are reduced in the Parkinsonian brain right.
Source: Memorangapp. Ok, and this protein called sonic hedgehog is important for the development of these dopamine neurons? Back inresearchers first reported that sonic hedgehog was required for the generation of dopamine neurons:. Title: Induction of midbrain dopaminergic neurons by Sonic hedgehog. Journal: Neuron.Name: SHH — sonic hedgehog Location: Chromosome 7 Length: 12, bases Role: Codes for a signalling protein crucial for determining the placement of limbs and organs in the developing embryo.
The seating arrangements for any school trip by coach are always the same. The kids who are going to cause trouble sit at the back.Windshield wipers exercise benefits
Right at the front near the teacher are the more nerdy pupils. And in between, along the length of the bus, a strange gradient of cool is established, depending on how far away from the teacher each child is sitting. The layout of the human body is established in much the same way.
When an embryo first forms, concentration gradients of various signalling proteins are established — high concentrations where the protein is being secreted getting progressively lower with increasing distance from the source — that tell this amorphous blob of cells which end is the front, the back, the top, the bottom. The interaction of these proteins lays down a basic body pattern, and this is where sonic hedgehog SHH comes in.
Imagine that the kids are all the same when they climb into the school bus and seat themselves at random. The "uncool" flowing from the teacher at the front of the bus sets up a concentrations gradient — from high concentration nearby to low at the back — that determines what kind of kid each becomes. So the kids at the back sprout cigarettes and spiky hair, while the kids at the front become the type to ask for extra homework. I was one of the latter, in case you hadn't guessed.
A similar thing happens with body cells. A cell has particular genes switched on depending on where in the body it happens to be: it knows where it is because of the concentrations of those signalling molecules, such as SHH. This creates a huge problem if SHH doesn't work for any reason. Fruit fly embryos that had been genetically modified to lack this and similar genes were covered in spine-like projections, so the scientists called the group of genes "hedgehog genes".
One of them was dubbed sonic hedgehogwhich I think passes as a joke in scientific circles. The consequences of a mutation in the SHH gene in humans are very serious indeed.
Most of the time, the embryo simply doesn't survive because its body layout is completely disordered. If the embryos do survive, they have major problems with brain and facial development. It is hard to believe that the layout of something as complex as the human body is determined by the diffusion of signalling proteins. And even harder to believe that it was a group of scientists who named one of them sonic hedgehog.Costillas de res recetas
Genetic spaghetti Embryos. The sonic hedgehog gene. A gene called sonic hedgehog plays a crucial role in ensuring all our limbs and organs are in the right place. Sonic hedgehog got its name after the embryos of fruit flies genetically modified to lack the gene grew spine-like projections.
Anna Perman. Name: SHH — sonic hedgehog Location: Chromosome 7 Length: 12, bases Role: Codes for a signalling protein crucial for determining the placement of limbs and organs in the developing embryo Site of action: The embryo The seating arrangements for any school trip by coach are always the same.S cientists are systematic and meticulous when it comes to naming genes.
That, however, has not always been the case. During the late s to s, the heyday for newly identified genes, scientists selected names based on emotion and free association.Esd pekk material properties
The results were public displays of scientific wit, whimsy, and irreverence. STAT interviewed a handful of researchers about that Wild-West era and how they came up with some of the more memorable gene names. Steven A. Wasserman, professor of biology at the University of California, San Diego.
Inafter months of experimentation, Wasserman and his team identified 83 new genes in flies that affected male fertility. But before publishing, the researchers had to name each of them. Wasserman: The genetics tradition is to sit down and have a naming party. Some of the genes [caused] mutant phenotypes that were similar to ones that other people had described. For example, one way you can get male sterility is that you do a lousy job making sperm heads and you get these things that look like balls under the microscope.
But then we had a few mutants that were just quite different. Suzanna Lewis, scientist and principal investigator at the Berkeley Bioinformatics Open-source Project.
Lewis was hard at work annotating the fruit fly genome —a herculean task that involved using computer programs to map genes and identify specific characteristics of their DNA. As a consolation prize, she was able to name a gene.
So we were just giving them unique identifier numbers. We were working late nights on this … there was such a deadline and so much pressure to get Drosophila finished and make all this information available. I have to give Mark Yandell credit for the idea. He wanted the elves to come out and help finish the work magically.
People remembered it.
We all would like to have the magic elves help us sometimes. Cliff Tabin, professor and chairman of the department of genetics at Harvard Medical School.
Sonic Hedgehog (I kid you not)
When three collaborating laboratories — led by Cliff Tabin, Andrew McMahon, and Philip Ingham — discovered a family of genes critical for embryonic development, they made a deal. But before publication, Robert Riddle, a postdoctoral fellow working in the Tabin lab, proposed another idea.
Tabin: It was the precomputer days. I got a mammalogy book and just looked up the names of different hedgehogs. I used three names. The original names that we used were desert hedgehogs that lived in Algeria, long-eared hedgehog, and common European hedgehog.Server-webapp zeroshell linux router command injection attempt
Riddle: I saw the ad for Sonic the Hedgehog in the back of a games magazine that my wife had brought home. I had never heard of that game … it sounded like the band Sonic Youth. I was into Sonic Youth among other bands. I thought [naming the gene Sonic hedgehog] would be a bit of a sly way for me to smile because it was somewhat of a reference to a band. Tabin: So I went to this meeting with Andy and Philip. What are we going to call the names?
They were not actually all that happy with the name [Sonic hedgehog] originally. Andy was one of the founding people who discovered the vertebrate Wnt genes and they were basically naming them Wnt1, Wnt 2, Wnt3a, Wnt3b, etc.
Phil, coming from the fly field originally, did like the idea of having more interesting names than just numbers. But he wanted names to reflect phenotypes or at least something about the gene. Each lab really contributed [to the research] in a major way … but we were the first ones who discovered a piece of Sonic.
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