Faculty Research

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    Insertion of a chimeric retrotransposon sequence in mouse Axin1 locus causes metastable kinky tail phenotype
    (2019) Wang, Zhuqing; McSwiggin, Hayden; Newkirk, Simon J.; Wang, Yue; Oliver, Daniel K.; Tang, Chong; Lee, Sandy; Wang, Shawn; Yuan, Shuiqiao; Zheng, Huili; Ye, Ping; An, Wenfeng; Yan, Wei
    Transposable elements (TEs) make up >50% of the human genome, and the majority of retrotransposon insertions are truncated and many are located in introns. However, the effects of retrotransposition on the host genes remain incompletely known.ResultsWe report here that insertion of a chimeric L1 (cL1), but not IAP solo LTR, into intron 6 of Axin1 using CRIPSR/Cas9 induced the kinky tail phenotype with similar to 80% penetrance in heterozygous Axin(cL1) mice. Both penetrant (with kinky tails) and silent (without kinky tails) Axin(cL1) mice, regardless of sex, could transmit the phenotype to subsequent generations with similar penetrance (similar to 80%). Further analyses revealed that a longer Axin1 transcript isoform containing partial cL1-targeted intron was present in penetrant, but absent in silent and wild type mice, and the production of this unique Axin1 transcript appeared to correlate with altered levels of an activating histone modification, H3K9ac.ConclusionsThe mechanism for Axin(cL1) mice is different from those previously identified in mice with spontaneous retrotransposition of IAP, e.g., Axin(Fu) and A(vy), both of which have been associated with DNA methylation changes. Our data suggest that Axin1 locus is sensitive to genetic and epigenetic alteration by retrotransposons and thus, ideally suited for studying the effects of new retrotransposition events on target gene function in mice.
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    Cornual abscess rupture: A rare etiology of acute abdomen
    (Clinical Case Reports, 2018) Patil, Pooja; Lua, Lannah L.; Brar, Bobby; Froehlich, Mary; Planinic, Petar
    Key Clinical Message Ruptured cornual abscess or pyometra can resemble other more common causes of acute abdomen, including appendicitis, diverticulitis, tubo-ovarian abscess, and perforated viscus. Despite its rarity, the diagnosis of ruptured pyometra should always be considered in females presenting with acute abdominal pain, particularly in the setting of a retained intrauterine device.
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    Robotic lower pelvic port placement for optimal upper paraaortic lymph node dissectionic port placement for optimal upper paraaortic lymph node dissection
    (Journal of Gynecologic Oncology, 2018) Paek, Jiheum; Kang, Elizabeth; Lim, Peter C.
    Upper paraaortic lymph node dissection (UPALD) to the infrarenal level is one of the most challenging robotic procedures. Because robotic system has the limitation in robotic arm mobility. This surgical video introduces a novel robotic approach, lower pelvic port placement (LP3), to perform optimally and simultaneously both UPALD and pelvic procedures in gynecologic cancer patients using da Vinci Xi system. Methods: The patient presented with high-grade endometrial cancer. She underwent robotic surgical staging operation. For the setup of the LP3, a line was drown between both anterior superior iliac spines. At 3 cm below this line, another line was drown and four robotic ports were placed on this line. Results: After paraaortic lymph node dissection (PALD) was completed, the boom of robotic system was rotated 180 degrees to retarget for the pelvic lateral displacement. Robotic ports were placed and docked again. The operation was completed robotically without any complication. Conclusion: The LP3 was feasible for performing simultaneously optimal PALD as well as procedures in pelvic cavity in gynecologic cancer patients. The advantage of LP3 technique is the robotic port placement that affords for multi-quadrant surgery, abdominal and pelvic dissection. The LP3 is facilitated by utilizing advanced technology of Xi system, including the patient clearance function, the rotating boom, and 'port hopping' that allows using every ports for a camera. The LP3 will enable surgeons to extend the surgical indication of robotic surgical system in the gynecologic oncologic field.