1: Dev Biol. 2004 Oct 15;274(2):271-9. SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors. Sekido R, Bar I, Narvaez V, Penny G, Lovell-Badge R. Division of Developmental Genetics, MRC National Institute for Medical Research, London NW7 1AA, UK. The Y chromosome gene Sry encodes a transcription factor required to initiate testis development. The related autosomal gene Sox9 is up-regulated shortly after the onset of Sry transcription and is thought essential for the differentiation of Sertoli cells. The lineage that gives rise to Sertoli cells has its origins within the coelomic epithelium (CE) of the genital ridge, but from cells also able to give rise to an interstitial cell type. It was not known at what point SRY acts in the derivation of this lineage or how the two genes interact. To investigate the identity of the cells expressing Sry, we designed two transgenes driven by the Sry promoter: one gives expression of a stable reporter, human placental alkaline phosphatase (hPLAP), while the second gives expression of a functional Myc-epitope tagged SRY protein (SRYMYC). Taking advantage of lasting hPLAP activity after transcription of the reporter gene has ceased, we could show that SryhPLAP was expressed exclusively in all cells fated to become Sertoli cells. SRYMYC-single-positive cells were first observed in the gonad and not in the CE. Subsequently, they became SRYMYC/SOX9-double-positive, but only for a few hours before turning into SOX9-single-positive cells. After the coelomic epithelial cells migrate into the gonad, there is first a decision to become interstitial or supporting cells, and then the transient expression of SRY in the latter determines their fate as Sertoli cells by up-regulating Sox9. PMID: 15385158 [PubMed - indexed for MEDLINE] --------------------------------------------------------------- 2: Rinsho Byori. 2003 Jun;51(6):536-43. [Molecular mechanisms of hereditary neuropathy: genotype-phenotype correlation] [Article in Japanese] Nakagawa M, Takashima H. Department of Neurology, Research Institute for Neurological Diseases and Geriatrics, Kyoto Prefectural University of Medicine, Kyoto 602-0841. Hereditary neuropathies are classified into several subtypes according to clinical, electrophysiologic and pathologic findings. Recent genetic studies have revealed their phenotypic and genetic diversities. In the primary peripheral demyelinating neuropathies(CMT1), at least 9 genes have been associated with the disorders; altered dosage of peripheral myelin protein 22(PMP22) or point mutation of PMP22, the gap junction protein 1(GJB1), the myelin protein zero gene(MPZ), the early growth response gene 2(EGR2), the myotubularin-related protein 2 gene(MTMR2), the N-myc downstream-regulated gene 1 (NDRG1), the L-periaxin gene(PRX), SRY-related HMG-BOX gene 10(SOX10) and the ganglioside-induced differentiation-associated protein 1 gene(GDAP1). In the primary peripheral axonal neuropathies(CMT2), at least 8 genes have been associated with these disorders; the neurofilament light chain gene(NEFL), the kinesin 1B gene(KIF1B), the gigaxonin gene(GAN1), Lamin A/C(LMNA) and tyrosyl-DNA phosphodiesterase 1(TDP1). In addition, some mutations in GJB1, MPZ and GDAP1 also present with clinical and electrophysiologic findings of CMT2. Mutation of NEFL or KIF1B cause dominantly inherited axonal neuropathies, whereas mutation of GJB1 or MPZ can present as genocopies of dominant axonal neuropathies. In addition to the above diseases, we have reported a new type of NMSNP(MIM # *604484) characterized by proximal dominant neurogenic atrophy, obvious sensory nerve involvement and the gene locus on 3q13. Here, we summarize the genetic bases of hereditary neuropathies and attempt to highlight significant genotype-phenotype correlations. Publication Types: Review Review, Tutorial PMID: 12884740 [PubMed - indexed for MEDLINE] --------------------------------------------------------------- 3: Gene. 1998 Jan 12;206(2):237-45. Structural organization and chromosomal localization of the mouse tesk1 (testis-specific protein kinase 1) gene. Toshima J, Nakagawara K, Mori M, Noda T, Mizuno K. Department of Biology, Faculty of Science, Kyushu University, Hakozaki, Fukuoka 812-81, Japan. TESK1 (testis-specific protein kinase 1) is a protein serine-threonine kinase, containing characteristic structural features composed of an N-terminal kinase domain and a C-terminal proline-rich domain. Tesk1 mRNA is predominantly expressed in testicular germ cells, and developmental changes of expression in mouse testis suggest a role for this kinase in spermatogenesis. In the present study, we isolated and determined the overall sequence of the mouse Tesk1 gene, which spans 6.1 kilobases (kb) and contains 10 exons and 9 introns. The protein kinase domain is located in exons 1-9, while the proline-rich domain is in exons 9 and 10. The deduced 627 amino acid sequence of mouse TESK1 shows 97% and 94% identity with the rat and human TESK1, respectively. Sequence of the 5'-flanking and -untranslated region is devoid of a TATA box, but does contain several potential binding sites for transcription factors, including Sp1, AP-1, c-Myc, SRY and CREM (cyclic AMP-responsive element modulator). As CREM is implicated in the activation of several male germ cell-specific genes, it is suggested that the expression of the Tesk1 gene is under the control of CREM transcription activity. The Tesk1 gene was mapped to mouse chromosome 4A5-C1 by fluorescence in situ hybridization. PMID: 9469938 [PubMed - indexed for MEDLINE] --------------------------------------------------------------- 4: FEBS Lett. 1991 Mar 11;280(1):167-70. A Drosophila nuclear localisation signal included in an 18 amino acid fragment from the serendipity delta zinc finger protein. Noselli S, Vincent A. Centre de Recherche de Biochimie et Genetique Cellulaire, Toulouse, France. Sequence analysis of the nuclear Drosophila serendipity delta Cys-2/His-2 finger protein indicated the presence of a short motif of positively charged amino acids, with homology to the SV40 large T and c-myc nuclear localisation signals. Using P-element mediated transformation we constructed transgenic Drosophila lines expressing beta-galactosidase fusion proteins, containing (or not) an 18 residue segment of sry delta including this basic, PTKKRVK, motif. Histochemical detection of fusion proteins on dissected tissues showed that this segment of sry delta can act autonomously to drive the beta-galactosidase in nuclei. PMID: 1849091 [PubMed - indexed for MEDLINE] ---------------------------------------------------------------