Inherited Variations in Noncoding Sections of DNA Associated with Autism

A new study has identified an association between paternally-inherited rare structural variants in noncoding segments of genes and the development of autism spectrum disorder (ASD)The study, funded in part by the National Institute of Mental Health (NIMH) and published in Science, adds to a growing body of research describing genetic contributors to ASD.

ASD is a developmental disorder that affects communication and behavior. Researchers have identified a number of genes associated with the development of ASD.

Many studies have focused on examining the inheritance of, or mutations in, portions of genes that code for the creation of proteins or other molecular products. But these new findings suggest that rare, inherited structural differences in the noncoding portions of genes also contribute to ASD.

“Gene sequences represent only two percent of the genome.” said Jonathan Sebat, Ph.D., of University of California San Diego School of Medicine (UCSD) and the Beyster Center for Genomics of Psychiatric Diseases.

“The next challenge is to identify ASD risk variants affecting genetic regulatory elements. Examining these elements will help us understand the genetic components that contribute to the development of ASD, and symptoms seen in people with ASD.”

The researchers examined the contribution of structural variants in noncoding regions of DNA called cis-regulatory elements (CRE-SVs) to ASD. These elements control the expression of genes.

The researchers sequenced the genomes of 829 families, which included 880 individuals with ASD, 630 individuals without ASD, and their parents. Participants with genetic mutations that are already well-established risk factors for ASD were not included in this study.

In this way, the researchers were able to focus on identifying noncoding inherited genetic variants that might be associated with ASD.

The researchers identified structural variations in coding and noncoding portions of DNA, and they examined the inheritance of these genetic elements from parents to their offspring.

Their research revealed deletions in protein-coding areas of genes were transmitted more often from parents to offspring with autism than from parents to offspring without autism.

They also found that CRE-SVs were transmitted more often from fathers to offspring with autism then from fathers to offspring without autism. Inheritance of maternal CRE-SVs were not associated with ASD in offspring.

Although the researchers found spontaneous (i.e., non-inherited) genetic mutations in the coding regions of offspring’s DNA, no spontaneous CRE-SV mutations in cases were found.

These findings were successfully replicated in a preregistered follow-up experiment examining the genomes of over 6,000 people. Based on this experiment, the authors estimate that:

  1. Rare inherited cis-regulatory components contribute in 0.77 percent of autism cases;
  2. Structural variants in coding regions contribute in 1.21 percent of autism cases;
  3. Additional inherited pathogenic variants contribute in 1.9 percent of autism cases; and,
  4. Spontaneous mutations to coding regions contribute in 5.1 percent of autism cases.

The paternal origin of CRE-SVs associated with autism contrasts with what would be expected based on simpler genetic models of autism which suggest that inherited genetic risk factors for autism originate predominantly from mothers.

“The paternal origin effect that we see for CRE-SVs suggests that the inherited genetic contribution from mothers and fathers may be qualitatively different,” said Dr. Sebat.

The findings also provide a demonstration of the usefulness of SV analysis for identifying and understanding the genetic regulatory elements that influence risk for ASD.

Data reported in the article are archived at the National Database for Autism Research (DOI:10.15154/1340302)

Esta entrada fue publicada en AUTISMO, DIVULGACIÓN. Guarda el enlace permanente.

107 respuestas a Inherited Variations in Noncoding Sections of DNA Associated with Autism

  1. berkey dijo:

    This design is wicked! You most certainly know how to keep a reader amused. Between your wit and your videos, I was almost moved to start my own blog (well, almost…HaHa!) Excellent job. I really enjoyed what you had to say, and more than that, how you presented it. Too cool!|

  2. zortilo nrel dijo:

    Aw, this was a really nice post. In concept I would like to put in writing like this additionally – taking time and precise effort to make an excellent article… however what can I say… I procrastinate alot and by no means seem to get something done.

  3. feed dijo:

    It’s very trouble-free to find out any topic on net as compared to textbooks, as I found this paragraph at this site.|

  4. thefeed dijo:

    What’s up to all, it’s genuinely a pleasant for me to pay a visit this site, it includes useful Information.|

  5. thefeed dijo:

    I got this site from my buddy who informed me regarding this web page and now this time I am browsing this web site and reading very informative posts at this time.|

  6. thefeed dijo:

    Hello, i think that i saw you visited my web site thus i got here to return the favor?.I’m trying to find issues to improve my site!I suppose its adequate to use some of your ideas!!|

  7. froleprotrem dijo:

    Thank you for the sensible critique. Me & my neighbor were just preparing to do some research about this. We got a grab a book from our area library but I think I learned more clear from this post. I’m very glad to see such magnificent info being shared freely out there.

  8. Attractive section of content. I just stumbled upon your site and in accession capital to assert that I acquire actually enjoyed account your blog posts. Anyway I’ll be subscribing to your feeds and even I achievement you access consistently fast.|

  9. Its like you read my mind! You seem to know so much about this, like you wrote the book in it or something. I think that you can do with some pics to drive the message home a little bit, but instead of that, this is magnificent blog. A great read. I’ll definitely be back.

  10. Pretty! This was an extremely wonderful article.
    Thank you for supplying this info.

  11. It’s going to be end of mine day, but before ending I am reading this great piece
    of writing to increase my experience.

  12. Oh my goodness! Awesome article dude! Thanks, However I am encountering problems with your RSS.

    I don’t understand why I cannot join it. Is there anybody having similar RSS issues?
    Anyone that knows the answer will you kindly respond?

  13. zortilonrel dijo:

    hello!,I like your writing so so much! proportion we keep in touch extra approximately your post on AOL? I require a specialist on this house to solve my problem. May be that is you! Having a look ahead to see you.

  14. I like this post, enjoyed this one thanks for posting. “The world is round and the place which may seem like the end may also be only the beginning.” by George Baker.

  15. Great site you have here but I was curious if you knew of any message boards that cover the same topics discussed here? I’d really like to be a part of online community where I can get advice from other knowledgeable individuals that share the same interest. If you have any recommendations, please let me know. Bless you!|

  16. I absolutely love your website.. Excellent colors & theme. Did you develop this web site yourself? Please reply back as I’m looking to create my very own blog and would like to know where you got this from or what the theme is called. Kudos!|

  17. I’m curious to find out what blog platform you happen to be working with? I’m experiencing some small security problems with my latest site and I’d like to find something more safe. Do you have any recommendations?|

  18. froleprotrem dijo:

    fantastic post.Never knew this, thanks for letting me know.

  19. It’s nearly impossible to find well-informed people
    in this particular subject, but you seem like you know what you’re
    talking about! Thanks asmr 0mniartist

  20. 0mniartist dijo:

    Asking questions are actually fastidious thing if you are not understanding
    something entirely, but this post provides nice understanding even. asmr 0mniartist

  21. dijo:

    Thank you for some other informative web site. Where else may I get that type of information written in such an ideal manner?
    I have a venture that I am simply now working on, and I’ve
    been on the glance out for such information. 0mniartist asmr

  22. with gamefly dijo:

    What’s up, yeah this paragraph is really good and I have learned lot of
    things from it about blogging. thanks.

  23. off asmr dijo:

    Thanks for finally writing about > Inherited Variations in Noncoding
    Sections of DNA Associated with Autism ⋆ AUTISMO :
    MAS para el AUTISMO < Liked it!

  24. asmr the dijo:

    It’s amazing to visit this site and reading the views of all friends regarding this
    post, while I am also eager of getting familiarity.

  25. gamefly it dijo:

    Hi there, You have done an incredible job. I’ll definitely digg it and personally recommend to my friends.
    I am confident they will be benefited from this website.

  26. it asmr dijo:

    Hey there exceptional blog! Does running a blog like this take a large amount
    of work? I have no expertise in programming however I had been hoping to
    start my own blog soon. Anyways, if you have any recommendations or techniques for new
    blog owners please share. I understand this is off subject but I simply had to ask.
    Appreciate it!

  27. whoah this blog is magnificent i really like reading your articles. Stay up the good work! You already know, a lot of persons are hunting round for this info, you can help them greatly. |

  28. dijo:

    Hey I am so glad I found your blog, I really found you by error, while I was looking on Bing for
    something else, Anyhow I am here now and would just like
    to say thanks a lot for a incredible post and a all round thrilling blog (I
    also love the theme/design), I don’t have time to read through it all
    at the minute but I have saved it and also added your RSS feeds,
    so when I have time I will be back to read a great
    deal more, Please do keep up the superb jo.

  29. asmr for dijo:

    Hello to every body, it’s my first go to see of
    this website; this webpage contains amazing and truly excellent information for visitors.

  30. I blog quite often and I seriously appreciate your content.
    This great article has really peaked my interest.
    I will book mark your blog and keep checking for new details about once a week.
    I opted in for your Feed too.

  31. I really like what you guys are usually up too. This sort of clever work and reporting!
    Keep up the superb works guys I’ve incorporated you guys to blogroll.

  32. Hello would you mind letting me know which hosting company you’re working with?
    I’ve loaded your blog in 3 completely different internet browsers and I must say this blog loads a lot quicker then most.
    Can you suggest a good internet hosting provider at a honest price?
    Cheers, I appreciate it!

  33. dijo:

    What’s up, for all time i used to check blog posts here early in the morning, since
    i love to find out more and more.

  34. Ermelinda dijo:

    It’s actually very difficult in this busy life to listen news on Television, therefore I simply use web
    for that purpose, and take the newest news.

  35. Observer dijo:

    I appreciate you sharing this blog article.Really thank you! Want more.

  36. Donte dijo:

    With havin so much content and articles do you ever run into
    any problems of plagorism or copyright violation?
    My website has a lot of unique content I’ve either written myself or outsourced but it seems a
    lot of it is popping it up all over the web without my permission. Do
    you know any techniques to help prevent content from being
    ripped off? I’d definitely appreciate it.

  37. We are a gaggle of volunteers and opening a brand
    new scheme in our community. Your site offered
    us with helpful information to work on. You’ve done an impressive activity and our entire group will be thankful to you.

  38. dijo:

    I am in fact pleased to read this web site posts which includes tons
    of helpful data, thanks for providing these data.

  39. Greetings! This is my first visit to your blog!
    We are a team of volunteers and starting a new initiative in a community in the same niche.
    Your blog provided us beneficial information to work on. You have done a wonderful job!

  40. Raymon dijo:

    I think the admin of this website is genuinely working hard in favor of his web site, since here every
    material is quality based information.

  41. Daryl dijo:

    I am really inspired along with your writing abilities as well
    as with the layout to your weblog. Is that this a paid subject or did you modify it
    yourself? Anyway stay up the nice quality writing, it
    is uncommon to look a great weblog like this one nowadays..

  42. Brenna dijo:

    Everyone loves it whenever people come together
    and share thoughts. Great website, continue the good work!

  43. I pay a visit everyday a few blogs and information sites to read articles or reviews, but
    this weblog presents quality based articles.

  44. I don’t even understand how I ended up here, but I thought this
    publish used to be great. I do not recognise who you might be
    but definitely you’re going to a famous blogger in the event you aren’t already.

  45. dijo:

    Article writing is also a excitement, if you know then you can write otherwise it is complex to write.

  46. manhwaland dijo:

    Really informative blog article.Much thanks again.

  47. Terrific article! That is the type of info that are meant to be shared across the web.

    Shame on the search engines for now not positioning this submit higher!
    Come on over and seek advice from my web site . Thanks =)

  48. dijo:

    Very rapidly this website will be famous amid all blogging and site-building viewers,
    due to it’s good articles or reviews

  49. Etta dijo:

    Appreciate this post. Will try it out.

  50. Hey! Would you mind if I share your blog with my facebook group?
    There’s a lot of folks that I think would really enjoy your content.
    Please let me know. Thank you

  51. Hi there, You’ve done a great job. I’ll certainly digg it and personally
    recommend to my friends. I’m confident they will be benefited from this web site.

    Feel free to visit my blog post pure skin care

  52. slot ios dijo:

    Great site. Plenty of helpful information here.
    I’m sending it to several pals ans additionally sharing in delicious.
    And of course, thank you for your effort!

  53. I have been surfing online more than 3 hours today, yet I never found
    any interesting article like yours. It is pretty worth enough
    for me. In my view, if all website owners and bloggers made good content
    as you did, the net will be much more useful than ever before.

  54. What’s up, this weekend is pleasant in support of me, as this moment i am
    reading this great informative article here at my house.

    Also visit my page … stop weed smoking (

  55. Cathy dijo:

    I view something truly interesting about your site so I bookmarked.

    Here is my web site … lower lumbar pain (Cathy)

  56. I have to voice my affection for your kindness supporting men and women that require
    help on the theme. Your special dedication to passing the solution all through turned out to be especially beneficial and have surely
    allowed many people like me to reach their endeavors.
    Your amazing helpful guidelines indicates a whole lot to me
    and somewhat more to my fellow workers. best skin care wishes;
    from everyone of us.

  57. Eulah dijo:

    Excellent way of describing, and pleasant article to get
    information about my presentation subject matter, which i am going to convey in school.

    Feel free to surf to my site … healthy eating diet (Eulah)

  58. Great post. I was checking continuously this blog and I’m
    impressed! Extremely helpful information specifically the last part 🙂
    I care healthy eating for kids such
    info a lot. I was seeking this particular info for a very long time.
    Thank you and best of luck.

  59. I don’t commonly comment but I gotta say thank you
    for the post on this special one :D.

    my page … mediterranean diet –

  60. dijo:

    It’s a shame you don’t have a donate button! I’d definitely donate to this outstanding blog!
    I suppose for now i’ll settle for book-marking and adding your RSS feed to my Google
    account. I look forward to new updates and will talk
    about this website with my Facebook group. Chat soon!

    My web blog – improve skin care –,

  61. Slot Android dijo:

    I am really inspired along with your writing abilities as smartly as with the
    layout for your blog. Is this a paid subject or did you modify it yourself?
    Either way keep up the nice high quality writing,
    it is uncommon to peer a great weblog like this one today..

  62. Thanks a bunch for sharing this with all people you really understand what you are talking approximately!

    Bookmarked. Please also seek advice from my web site =).
    We will have a link trade agreement between us!

    My blog post … pubic hair removal

  63. Wow, incredible blog format! How lengthy have you ever been blogging for?
    you make blogging glance easy. The full glance of your web site is great,
    as neatly as the content material![X-N-E-W-L-I-N-S-P-I-N-X]I simply couldn’t leave your web
    site prior to suggesting that I actually enjoyed the standard info a person supply in your guests?
    Is going to be back frequently to inspect new posts.

    my site … healthy eating menu

  64. Wonderful article! That is the kind of info that should be shared across the internet.
    Shame on the search engines for now not positioning this publish higher!

    Come on over and discuss with my web site .
    Thank you =)

  65. Thank you for every other great post. Where else may anyone get that
    kind of information in such a perfect approach of writing?
    I have a presentation subsequent week, and I’m at the search for such info.

    my web page –

  66. Barry dijo:

    What i do not realize is in fact how you are now not actually a lot more neatly-preferred than you may be right
    now. You’re very intelligent. You already know
    thus significantly when it comes to this topic, produced me personally believe it from numerous varied angles.
    Its like women and men are not interested unless it’s one
    thing to accomplish with Girl gaga! Your personal stuffs outstanding.
    At all times care for it up!

    Check out my web blog belly busting supplements (Barry)

  67. sex life dijo:

    Hello, I think your blog might be having browser compatibility issues.
    When I look at your blog in Safari, it looks fine but when opening
    in Internet Explorer, it has some overlapping. I just wanted to give you a quick heads up!
    Other then that, wonderful blog!

    Visit my blog; sex life

  68. We are a group of volunteers and starting a new scheme in our community.
    Your web site offered us with valuable info to work on. You have done an impressive job and
    our entire community will be thankful to you.

  69. When I originally commented I clicked the “Notify me when new comments are added” checkbox and now each time a comment is added I get several e-mails with the same comment.
    Is there any way you can remove me from that service? Thanks a lot!

  70. I go to see every day some web pages and blogs to read posts,
    however this website provides quality based posts.

    Here is my webpage: free fire hack

  71. katalog firm dijo:

    My coder is trying to persuade me to move to .net from PHP.
    I have always disliked the idea because of the costs. But he’s tryiong
    none the less. I’ve been using Movable-type on a variety of
    websites for about a year and am nervous about switching to
    another platform. I have heard fantastic things about
    Is there a way I can import all my wordpress posts into it?

    Any help would be greatly appreciated!

  72. Hi there Dear, are you genuinely visiting this website on a
    regular basis, if so afterward you will absolutely
    take good experience.

  73. Way cool! Some very valid points! I appreciate you penning this post and the
    rest of the site is really good.

    Feel free to surf to my blog post :: slot367 –,

  74. Link exchange is nothing else but it is simply placing the other person’s web site link on your page at proper
    place and other person will also do similar for you.

  75. I am sure this post has touched all the internet viewers, its really really pleasant article on building up new web site.

  76. hello there and thank you for your info – I have definitely picked up anything new from right here.
    I did however expertise some technical issues using this site,
    since I experienced to reload the web site lots of times previous to I
    could get it to load properly. I had been wondering if your web host
    is OK? Not that I am complaining, but sluggish loading
    instances times will sometimes affect your placement in google and could damage your high-quality score if advertising and marketing
    with Adwords. Anyway I am adding this RSS to my e-mail and
    can look out for a lot more of your respective fascinating content.

    Make sure you update this again soon.

    Here is my web-site – Deposit pulsa tanpa potongan

  77. slot online dijo:

    I’ve been browsing on-line more than 3 hours today,
    but I by no means discovered any interesting
    article like yours. It’s beautiful worth enough for me. In my view, if all webmasters and bloggers made
    excellent content as you probably did, the web can be much more useful than ever before.

    my webpage :: slot online

  78. slot367 dijo:

    This is very interesting, You are a very skilled blogger.
    I’ve joined your rss feed and look forward to seeking more of your great post.
    Also, I have shared your website in my social networks!

    Here is my web-site … slot367

  79. Aid Ukraine dijo:

    wonderful publish, very informative. I wonder why the other specialists of this sector do not notice this. You should proceed your writing. I’m confident, you’ve a great readers’ base already!

  80. fantastic publish, very informative. I’m wondering why the opposite experts of this sector do not realize this. You should proceed your writing. I’m confident, you have a great readers’ base already!

  81. Hey just wanted to give you a quick heads up. The words in your article seem to be
    running off the screen in Safari. I’m not sure if this is a format issue or
    something to do with internet browser compatibility but I
    thought I’d post to let you know. The layout look great though!
    Hope you get the issue fixed soon. Many thanks

  82. Good day! Do you use Twitter? I’d like to follow you if that would be ok.
    I’m definitely enjoying your blog and look forward to new updates.

  83. aid ukraine dijo:

    This is a topic that is near to my heart…

    Cheers! Exactly where are your contact details though? aid ukraine

  84. save refuges dijo:

    Heya i’m for the first time here. I found this board and
    I find It really useful & it helped me out much.

    I hope to give something back and help others like you aided me.

    save refuges

  85. magnificent submit, very informative. I’m wondering why the opposite specialists of this sector don’t realize this. You must proceed your writing. I am confident, you’ve a great readers’ base already!

  86. wonderful put up, very informative. I’m wondering why the other specialists of this sector do not notice this. You must continue your writing. I’m sure, you’ve a great readers’ base already!

  87. Today, while I was at work, my sister stole my iPad and tested to see if it can survive a thirty foot drop, just so she can be a youtube sensation. My apple ipad is now destroyed and she has 83 views. I know this is entirely off topic but I had to share it with someone!

  88. magnificent publish, very informative. I wonder why the other specialists of this sector don’t understand this. You must continue your writing. I am confident, you have a huge readers’ base already!

  89. mp3juices dijo:

    I used to be able to find good information from your content.

  90. Way cool, some valid points! I appreciate you making this article available, the rest of the site is also high quality. Have a fun.

  91. tubidy dijo:

    Spot on with this write-up, I actually think this web site needs a great deal more attention. I’ll probably be returning to read through more, thanks for the advice.

  92. This blog is definitely rather handy since I’m at the moment creating an internet floral website – although I am only starting out therefore it’s really fairly small, nothing like this site. Can link to a few of the posts here as they are quite. Thanks much. Zoey Olsen

  93. Your style is so unique compared to many other people. Thank you for publishing when you have the opportunity,Guess I will just make this bookmarked.2

  94. Toby Herd dijo:

    The problem with the old school bakeware made of metal is that they rust.

  95. I like this website its a master peace ! Glad I discovered this on google .

  96. Nice blog here! Also your site loads up fast! What web host are you using? Can I get your affiliate link to your host? I wish my site loaded up as quickly as yours lol

  97. I wanted to thank you for this great read!! I definitely enjoying every little bit of it I have you bookmarked to check out new stuff you post…

  98. Hello! I could have sworn I’ve been to this blog before but after browsing through some of the post I realized it’s new to me. Anyways, I’m definitely happy I found it and I’ll be book-marking and checking back frequently!

  99. Norah Lab dijo:

    After all, what a great site and informative posts, I will upload inbound link – bookmark this web site? Regards, Reader.

  100. Your style is so unique compared to many other people. Thank you for publishing when you have the opportunity,Guess I will just make this bookmarked.2

  101. This is a topic close to my heart cheers, where are your contact details though?

  102. Sandy Oboyle dijo:

    Hi , I do believe this is an excellent blog. I stumbled upon it on Yahoo , i will come back once again. Money and freedom is the best way to change, may you be rich and help other people.

  103. Erin Gouveia dijo:

    Greetings! Very helpful advice on this article! It is the little changes that make the biggest changes. Thanks a lot for sharing!

  104. Hello! I just would like to give a huge thumbs up for the great info you have here on this post. I will be coming back to your blog for more soon.

  105. Some truly great posts on this site, appreciate it for contribution. “A religious awakening which does not awaken the sleeper to love has roused him in vain.” by Jessamyn West.

  106. Your place is valueble for me. Thanks!…

  107. Rosemary dijo:

    hey there and thank you for your information – I have definitely picked up something new from right here.
    I did however expertise several technical issues using this
    web site, since I experienced to reload the website lots of times
    previous to I could get it to load properly. I had been wondering if your hosting is OK?
    Not that I’m complaining, but slow loading instances times will often affect
    your placement in google and could damage your
    quality score if ads and marketing with Adwords.
    Anyway I am adding this RSS to my email and could look out for much more of your respective fascinating
    content. Ensure that you update this again soon.

Deja una respuesta

Tu dirección de correo electrónico no será publicada. Los campos obligatorios están marcados con *