Results 1 to 5 of 5

Thread: A common 1.6 Mb Y-chromosomal inversion predisposes ... severe spermatogenic failure

Threaded View

Previous Post Previous Post   Next Post Next Post
  1. #1
    Gold Class Member
    Posts
    816
    Sex
    Location
    San Diego, CA
    Ethnicity
    Polish/British Isles
    Nationality
    U.S.
    Y-DNA (P)
    R-A9185
    mtDNA (M)
    H1
    mtDNA (P)
    J1c2

    Poland England Ireland Munster

    A common 1.6 Mb Y-chromosomal inversion predisposes ... severe spermatogenic failure

    A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

    Pille Hallast, Laura Kibena, Margus Punab, Elena Arciero, Siiri Rootsi, Marina Grigorova, Rodrigo Flores, Mark A. Jobling, Olev Poolamets, Kristjan Pomm, Paul Korrovits, Kristiina Rull, Yali Xue, Chris Tyler-Smith, Maris Laan

    Abstract
    Male infertility is a prevalent condition, concerning 5-10% of men. So far, only some recurrent genetic factors have been described as confident contributors to spermatogenic failure. Here, we report the first re-sequencing study of the Y-chromosomal Azoospermia Factor c (AZFc) region combined with gene dosage and Y-haplogroup determination. In analysing 2,324 Estonian men, we uncovered a novel structural variant as a high-penetrant risk factor to male infertility. The Y lineage R1a1-M458, reported at >20% frequency in several European populations, carries a fixed ∼1.6 Mb long r2/r3 inversion destabilizing the AZFc region and predisposing to recurrent microdeletions. Such complex rearrangements were significantly enriched among severe oligozoospermia cases. The carrier vs non-carrier risk to spermatogenic failure was increased 8.6-fold (p = 6.0 10−4). The finding contributes to improved molecular diagnostics and clinical management of infertility. Carrier identification in young age will facilitate timely counselling and reproductive decision-making
    YFull: YF14620 (Dante Labs 2018)

  2. The Following 3 Users Say Thank You to pmokeefe For This Useful Post:

     JLJD (01-12-2021),  Norfern-Ostrobothnian (01-07-2021),  Riverman (01-07-2021)

Similar Threads

  1. Replies: 1
    Last Post: 07-08-2020, 05:39 PM
  2. Replies: 0
    Last Post: 07-02-2017, 12:56 AM
  3. FTDNA my origins 2.0 failure......
    By Finn in forum FTDNA
    Replies: 101
    Last Post: 04-21-2017, 11:20 PM
  4. Lupus More Severe In Patients With Southern European Ancestry
    By rock hunter in forum Medical Genetics
    Replies: 0
    Last Post: 06-03-2016, 11:39 PM
  5. Replies: 0
    Last Post: 06-03-2016, 11:38 PM

Posting Permissions

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