1: Biochem Biophys Res Commun. 2001 Nov 9;288(4):969-74. Mouse GLUT8: genomic organization and regulation of expression in 3T3-L1 adipocytes by glucose. Scheepers A, Doege H, Joost HG, Schurmann A. Institute of Pharmacology and Toxicology, Technical University of Aachen, Aachen, D-52057, Germany. Glucose transporter 8 (GLUT8) is a class III sugar transport facilitator predominantly expressed in testis and insulin-regulated tissues. Here we describe its genomic organization, the identification of its promoter region, and the regulation of its expression in 3T3-L1 cells. The mouse Glut8 gene spans approximately 9 kb, consists of 10 exons, and is highly similar to the human GLUT6 gene. Its 5'-flanking region exhibits promoter activity when fused with a luciferase reporter construct and expressed in HEK-293T cells. A deletion analysis indicated that the critical promoter elements are located in a region between -381 and the transcription start. This region comprises a CAAT box and consensus binding sites for the transcription factors SRY and NF1 that were highly conserved in the mouse and in the human sequence. In 3T3-L1 cells, GLUT8 mRNA levels increased markedly during the differentiation of cells. In contrast to GLUT1, expression of GLUT8 mRNA was significantly reduced by glucose deprivation and by prolonged hypoxia. The present data suggest that the function of GLUT8 is related to the adipocyte-like phenotype of 3T3-L1 cells, and that its expression is controlled by the metabolism of the adipocyte. Copyright 2001 Academic Press. PMID: 11689004 [PubMed - indexed for MEDLINE] --------------------------------------------------------------- 2: Am J Med Genet. 2001 Sep 1;102(4):353-8. A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. Wei F, Cheng S, Badie N, Elder F, Scott C Jr, Nicholson L, Ross JL, Zinn AR. McDermott Center for Human Growth and Development, UT Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390-8591, USA. We report on a man with neurofibromatosis type 1 (NF1) and Leri-Weill dyschondrosteosis (LWD). His father had NF1. His mother had LWD plus additional findings of Turner syndrome (TS): high arched palate, bicuspid aortic valve, aortic stenosis, and premature ovarian failure. The proband's karyotype was 46,X,dic(X;Y)(p22.3;p11.32). Despite having almost the same genetic constitution as 47,XXY Klinefelter syndrome, he was normally virilized, although slight elevation of serum gonadotropins indicated gonadal dysfunction. His mother's karyotype was mosaic 45,X[17 cells]/46,X,dic(X;Y)(p22.3;p11.32)[3 cells].ish dic(X;Y)(DXZ1 +,DYZ1 + ). The dic(X;Y) chromosome was also positive for Y markers PABY, SRY, and DYZ5, but negative for SHOX. The dic(X;Y) chromosome was also positive for X markers DXZ1 and a sequence < 300 kb from PABX, suggesting that the deletion encompassed only pseudoautosomal sequences. Replication studies indicated that the normal X and the dic(X;Y) were randomly inactivated in the proband's lymphocytes. LWD in the proband and his mother was explained by SHOX haploinsufficiency. The mother's female phenotype was most likely due to 45,X mosaicism. This family segregating Mendelian and chromosomal disorders illustrates extreme sex chromosome variation compatible with normal male and female sexual differentiation. The case also highlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency. Copyright 2001 Wiley-Liss, Inc. Publication Types: Case Reports PMID: 11503163 [PubMed - indexed for MEDLINE] --------------------------------------------------------------- 3: Biochem Biophys Res Commun. 1998 Apr 17;245(2):370-7. Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals. Margarit E, Guillen A, Rebordosa C, Vidal-Taboada J, Sanchez M, Ballesta F, Oliva R. Hospital Clinic, Institut de Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. We have sequenced the 5' region of the SRY gene from human, chimpanzee, sheep, and mouse and from four additional mammalian species, not previously characterized (gorilla, gazelle, rat, and guinea pig). In order to identify conserved DNA elements potentially involved in the regulation of the SRY gene, the newly determined sequences were analyzed and compared to all mammalian SRY promoter sequences available at present. Ten highly conserved potential regulatory elements have been identified in all 10 species (AP1, Barbie, GATA, Gfi1, cMyb, vMyb, NF1, Oct1, Sp1, and SRY). The known function of several of these regulatory elements fits well with the known expression of the SRY gene. However, except for the highly conserved coding HMG motif, only a short region close to the initiation of transcription in the human SRY is conserved in the exact position along the gene in all the species analyzed. This lack of sequence identity at the orthologous positions is consistent with the suggested rapid evolution of the SRY gene. This relative lack of homology contrasts with a high sequence identity of the putative regulatory sequences found within each taxonomic group of species (primates, bovids, and rodents), which supports a common mechanism of SRY expression and possibly also a similar function. PMID: 9571157 [PubMed - indexed for MEDLINE] ---------------------------------------------------------------