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Choi, Mikyung,Lee, Ok-Hee,Jeon, Sanghyun,Park, Miseon,Lee, Dong Ryul,Ko, Jeong-Jae,Yoon, Tae Ki,Rajkovic, Aleksandar,Choi, Youngsok Elsevier 2010 FEBS letters Vol.584 No.16
<P><B>Abstract</B></P><P>Nobox is an oocyte-specific transcriptional regulator. <I>Nobox</I> deficiency disrupts early folliculogenesis and the expression of oocyte-specific genes in mice. In the present study, we found that peptidylarginine deiminase 6 (<I>Pad6</I>) was downregulated in <I>Nobox</I>-null ovaries. <I>Pad6</I> is preferentially expressed in oocytes and its transcript is detectable at embryonic day 16.5. In addition, we identified one Nobox DNA-binding element (NBE) within the mouse <I>Pad6</I> promoter. The NBE includes a core sequence TAATTA. Sequence-specific binding of Nobox to the TAATTA motif was confirmed. <I>Nobox</I> overexpression augmented transcriptional activity of a <I>luciferase</I> reporter driven by mouse Pad6. Our findings indicate that Nobox is a critical regulator that orchestrates oocyte-specific genes such as <I>Pad6</I> during folliculogenesis.</P>
Mutations in SOHLH1 gene associate with nonobstructive Azoospermia
Choi, Youngsok,Jeon, Sanghyun,Choi, Mikyung,Lee, Min-ho,Park, Miseon,Lee, Dong Ryul,Jun, Kyu-Yeon,Kwon, Youngjoo,Lee, Ok-Hee,Song, Seung-Hun,Kim, Ji-Young,Lee, Kyung-Ah,Yoon, Tae Ki,Rajkovic, Aleksand Wiley Subscription Services, Inc., A Wiley Company 2010 Human mutation Vol.31 No.7
<P>In a previous study, we found SOHLH1 (spermatogenesis and oogenesis-specific basic helix-loop-helix 1) as the first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation. SOHLH1 therefore represents an excellent candidate gene for testicular failure such as nonobstructive azoospermia (NOA). We analyzed whether there were mutations in the SOHLH1 gene in 96 Korean patients with NOA. The sequence analysis discovered three novel variations: one intronic variant (c.346−1G>A), and two nonsynonymous exonic variants (c.91T>C and c.529C>A) with known single nucleotide polymorphisms (SNPs), which included six intronic variants, two synonymous, and two nonsynonymous variants. We examined the consequences of mutations in SOHLH1 using in vivo and in vitro assays. Analysis of transcripts from minigenes carrying the c.346−1G>A revealed that splicing site variation leads to the partial deletion at a cryptic splicing site within exon 4. This deletion results in SOHLH1 with a truncated bHLH domain. Transient transfection assay showed that the SOHLH1 mutant with the truncated domain disrupted the transcriptional activity of KIT promoter, whereas two missense mutations harboring either p.Arg37Gln or p.Pro269Ser did not have a significant effect on its transactivation. Our findings indicate that a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis. Hum Mutat 31:788–793, 2010. © 2010 Wiley-Liss, Inc.</P>