Eupedia Forums
Site NavigationEupedia Top > Eupedia Forum & Japan Forum
Results 1 to 4 of 4

Thread: Male Infertility and denovo mutations

  1. #1
    Advisor Angela's Avatar
    Join Date
    02-01-11
    Posts
    20,526


    Ethnic group
    Italian
    Country: USA - New York



    Male Infertility and denovo mutations

    See:
    https://www.biorxiv.org/content/10.1...02.27.433155v1

    "De novo mutations (DNMs) are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that DNMs play an important role in male infertility and explain a significant fraction of the genetic causes of this understudied disorder. To test this hypothesis, we performed trio-based exome-sequencing in a unique cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare protein altering DNMs were classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of Loss-of-Function (LoF) DNMs in LoF-intolerant genes (p-value=1.00x10-5) as well as predicted pathogenic missense DNMs in missense-intolerant genes (p-value=5.01x10-4). One DNM gene identified, RBM5, is an essential regulator of male germ cell pre-mRNA splicing. In a follow-up study, 5 rare pathogenic missense mutations affecting this gene were observed in a cohort of 2,279 infertile patients, with no such mutations found in a cohort of 5,784 fertile men (p-value=0.009). Our results provide the first evidence for the role of DNMs in severe male infertility and point to many new candidate genes affecting fertility."

    I'm reminded of all the papers indicating that it is men not women who accumulate more mutations with age.


    Non si fa il proprio dovere perchè qualcuno ci dica grazie, lo si fa per principio, per se stessi, per la propria dignità. Oriana Fallaci

  2. #2
    Junior Member
    Join Date
    05-05-21
    Posts
    9


    Country: USA - Wyoming



    Unfortunately, the problem of infertility is familiar to more and more families

  3. #3
    Advisor Angela's Avatar
    Join Date
    02-01-11
    Posts
    20,526


    Ethnic group
    Italian
    Country: USA - New York



    I saw an alarming analysis the other day claiming an extreme drop in male fertility over the past decades. I have no idea what the cause could be, although the fact that it was more present in "first world" countries leads me to believe it might be something environmental. I know people have speculated that it might be plastics in the environment, but I wonder if it's electronics or computer screens; all the gaming that young men do which causes mutations.

    There's also the well known rise in primary brain tumors, and high tension electricity poles, cell phones, etc. have been implicated.

  4. #4
    Regular Member
    Join Date
    25-06-18
    Posts
    1,585

    Y-DNA haplogroup
    R1b-M269 (LDNA)
    MtDNA haplogroup
    U5a1b

    Ethnic group
    Thracian
    Country: Greece



    Quote Originally Posted by Angela View Post
    I saw an alarming analysis the other day claiming an extreme drop in male fertility over the past decades. I have no idea what the cause could be, although the fact that it was more present in "first world" countries leads me to believe it might be something environmental. I know people have speculated that it might be plastics in the environment, but I wonder if it's electronics or computer screens; all the gaming that young men do which causes mutations.

    There's also the well known rise in primary brain tumors, and high tension electricity poles, cell phones, etc. have been implicated.
    I would speculate that it is insecticides and herbicides in our food supply. I would also ascribe it to the tendency of having kids later in life in the so called first world.

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •