#mutations

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1 Apr., ‘22

Diverse autism mutations lead to different disease outcomes

People with autism have a wide range of symptoms, with no two people sharing the exact type and severity of behaviors. Now a large-scale analysis of hundreds of patients and nearly 1000 genes has started to uncover how diversity among traits can be traced to differences in patients’ genetic mutations. The study, conducted by researchers at Columbia University Medical Center, was published Dec. 22 in the journal Nature Neuroscience.

Autism researchers have identified hundreds of genes that, when mutated, likely increase the risk of developing autism spectrum disorder (ASD). Much of the variability among people with ASD is thought to stem from the diversity of underlying genetic changes, including the specific genes mutated and the severity of the mutation.

“If we can understand how different mutations lead to different features of ASD, we may be able to use patients’ genetic profiles to develop accurate diagnostic and prognostic tools and perhaps personalize treatment,” said senior author Dennis Vitkup, PhD, associate professor of systems biology and biomedical informatics at Columbia University’s College of Physicians & Surgeons.

Jonathan Chang, Sarah R Gilman, Andrew H Chiang, Stephan J Sanders, Dennis Vitkup. Genotype to phenotype relationships in autism spectrum disorders.Nature Neuroscience, 2014; DOI: 10.1038/nn.3907

Why Males Are Biology’s Riskier Sex This may be surprising to some: A woman’s age is not

Why Males Are Biology’s Riskier Sex

This may be surprising to some: A woman’s age is not alone in affecting pregnancy and birth, despite the impression often given. 

 Reviewing Paul Raeburn’s book Do Fathers Matter?, Tabitha Powledge wrote:

“Everybody knows that older mothers run higher risks of a baby with birth defects — Down syndrome being the most common and best-known. By comparison, hardly anybody knows that the older Dad gets, the riskier it is for him to conceive a child.”

Partners age together, so a fetus or baby with an older mother will mostly have an older father, too. Logic demands exploration of age effects in both sexes. Though few and far between, such studies do indeed reveal that both men and women contribute.

With Down syndrome, age effects for fathers and mothers are roughly balanced.Butnew data clearly show that, when it comes to inherited defects, fathers actually carry greater risks than mothers. Random changes in DNA — mutations — accumulate four times faster in sperms than in eggs.


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A Malayan jungle nymph exhibiting bilateral gynandromorphism - the green half of it is female, while

A Malayan jungle nymph exhibiting bilateral gynandromorphism - the green half of it is female, while the brown half is male.

“The cause of this phenomenon is typically, but not always, an event in mitosis during early development. While the organism is only a few cells large, one of the dividing cells does not split its sex chromosomes typically. This leads to one of the two cells having sex chromosomes that cause male development and the other cell having chromosomes that cause female development.”


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While most specimens of Lingcod fish have white meat, a select few - about 20% - sport bright teal fWhile most specimens of Lingcod fish have white meat, a select few - about 20% - sport bright teal f

While most specimens of Lingcod fish have white meat, a select few - about 20% - sport bright teal flesh and innards. The cause of the colour change is unknown, but some suspect that biliverdin, a bile pigment, could be the culprit.

The fish is still safe to eat, and some even claim blue lingcod taste better than their less eccentric brethren.

Photo credits: Outdoorhub,kfeltme


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bundyspooks: Janus cats are cats born with two-faces. The name comes from the Roman god of transitbundyspooks: Janus cats are cats born with two-faces. The name comes from the Roman god of transit

bundyspooks:

Janus cats are cats born with two-faces. The name comes from the Roman god of transitions, gates and doorways, Janus. Above is a famous Janus cat named Frank & Louie, who was born on September 8th, 1999, and holds the Guinness World Record for the longest living Janus cat. The average life span of a cat like Frank & Louie is 1-4 days– He lived to be over 15 years old and suffered no health problems throughout his long life.


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snakesandkittens:The skeleton of a set of conjoined twin harbor seal pups. Their mother was found snakesandkittens:The skeleton of a set of conjoined twin harbor seal pups. Their mother was found

snakesandkittens:

The skeleton of a set of conjoined twin harbor seal pups. Their mother was found washed up on a beach with the twins halfway birthed - this is the first documented case of conjoined twins in this species! Such an incredible specimen (at the museum where I volunteer).


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congenitaldisease: This bull shark possessed two heads, two hearts and two stomachs. 

congenitaldisease:

Thisbull shark possessed two heads, two hearts and two stomachs. 


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lonelinessisadisease: dovahbutt: thank you anon ^^ and here you go. i tried to make it fairly accura

lonelinessisadisease:

dovahbutt:

thank you anon ^^ and here you go. i tried to make it fairly accurate, but i stopped watching the clone wars show a long long time ago (not my favourite by any means) so i apologise if anything is wrong.

okay so why does rex have blonde hair? jango has black/dark brown hair, so is there a legit explanation? does he bleach it?

I was going to just leave a comment and reblog separately, but it got too long so here it is as a reblog:

Dude I love the art style! It’s really cool and I love the shading/lighting for everything. I really, really like the armor. Like, cannot get over it. The scratches? Very sexy. I think my favorite part is the … shoulder thing. Also my boy has forearms oh my God.

So, there are couple theories for the hair thing, though there isn’t a canon explanation:

1. He dyed/bleached it. Easy enough, we see several clones with clearly dyed hair in TCW (google “Crys” for reference, and possibly Gree, though he doesn’t work if we also think about the second theory).  Although you would think that Rex’s hair, if dyed/bleached, would grow out and start showing roots during times where he’s captured, on the front lines, etc. But it never does, so idk.

2. It’s a genetic mutation. Also pretty easy to consider seeing as we know there are other genetic mutations in the cloning process that can happen (see, the Bad Batch and clone 99), this can also happen in real life (minus the cloning), and we also see very young clones with blonde hair as well (Omega and that one other kid we see in one of Boba’s episodes). Considering the Kaminoans’ take with clones and their individuality (which seems to be rather strongly against it), it’s unlikely these two children were able to access the same hair dye that clones on the front lines can.

We also know it’s in Jango’s genetic material according to Legends (though I think the comic’s been semi re-canonized due to the Mandalorian season 2), because his sister and mother were blonde. His mother’s hair in particular seems to have similar texture and style to the blonde clones’.

We can’t use a punnett square or anything for hair, because it’s determined by multiple alleles and thus, could happen regardless, but with the mother’s hair, and considering it can’t be totally recessive if the sister was also blonde, it’s possible that a mutation occured in the cloning process and, if Jango was likely to be blonde himself anyway, this is reasonably an occurance that could happen more than once (thus explaining how there’s multiple clones with this mutation).

An additional point of notice is that if his (Rex’s) hair is naturally blonde, it’s possible that there are clones with mixed hair types, or hair with other colors from Jango’s DNA. Now, according to this one article I read xD, black hair is made from a subtype of the same pigment that makes brown and blonde, but is dominant and less likely to blend with other colors. And Jango definately has black hair (look at the movies or the Wiki, comics is iffy) like his father.

But Boba doesn’t (even if it says so on the Wiki, look at movie Boba’s actual hair), so what I’m saying is, it’s already pretty likely that hair mutations are happening, even if you don’t personally think it’s happening here with Rex. There is … at least a decently good change this is what’s happening with Rex.

Also possibly Commander Gree, who might just have naturally red-brown hair and eyebrows along with his monstrosity of a haircut (god, it is sobad).

3. He’s naturally blonde and dyes his eyebrows. Lmao, could be? I mean, not all naturally blonde people have blonde eyebrows. You can’t really tell by the mother in Open Seasons (the comic), but the mom might have acutal eyebrows and the sister definately has blonde eyebrows, so 50/50 I guess. That said, if this were the case, dark-haired people can also have blonde eyebrows so if this mutation occured it’s also possible that we’d get dark haired clones with blonde eyebrows. Soooooo, food for thought.

Anyways, all this to say, nobody knows, and this got way longer than I meant it to be. Sorry my guy. Hope you like the answer because it takes up most of the page. (×̯×)

(p.s. ur art is sick af)


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crazyratladee:This is a picture of a Goldschmidt toad that has a mutation that caused its eyes to

crazyratladee:

This is a picture of a Goldschmidt toad that has a mutation that caused its eyes to grow inward into its mouth. Therefore,it needs to open its mouth to see. It was found in a garden in Canada.


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