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Nucleic Acid Purification & Analysis> | Oligo donors with 123–base pair (bp) (for Q392*, C347S, and K346E) or 100-bp (for 21_23delTEP) homology to sequences on both sides of the mutation site were obtained as ultramer DNA oligos from GenScript Corporation. | Get A Quote |
Connexins and pannexins are two protein families that play an important role in cellular communication. Pannexin 1 (PANX1), one of the members of pannexin family, is a channel protein. It is glycosylated and forms three species, GLY0, GLY1, and GLY2. Here, we describe four independent families in which mutations in cause familial or sporadic female infertility via a phenotype that we term "oocyte death." The mutations, which are associated with oocyte death, alter the PANX1 glycosylation pattern, influence the subcellular localization of PANX1 in cultured cells, and result in aberrant PANX1 channel activity, ATP release in oocytes, and mutant PANX1 GLY1. Overexpression of a patient-deri... More