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J E Phay

Publications and source records attributed to J E Phay.

4 recordsLinked to original sources
PubMed2000

Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).

Several lines of evidence suggest the existence of additional members of the mammalian facilitative glucose transporter family. A human cDNA sequence corresponding to a novel member of the glucose transporter family (GLUT1-5) was identified (GLUT9; HGMW-approved symbol SLC2A9), and it encodes a putative transporter of 540 amino acids. The predicted protein has sequence identity of 44 and 38% to Glut5 and Glut1, respectively. Based on hydropathic analysis, the novel transporter's predicted topology consists of 12 transmembrane domains, similar to the other family members. Northern analysis reveals three mRNA species: a major transcript of 1.9 kb and two other transcripts of 3.1 and 5.0 kb, found primarily in kidney and liver, but present at low levels in several other tissues. GLUT9 was localized to chromosome 4 using a monochromosomal human/rodent somatic cell hybrid mapping panel. A portion of the GLUT9 cDNA is represented in a National Center for Biotechnology Information UniGene cluster, which maps to chromosome 4p15.3-p16.

Amino Acid Sequence↗
PubMed2000

Multiple endocrine neoplasias.

Multiple endocrine neoplasia type 1 (MEN 1), and the multiple endocrine neoplasia type 2 syndromes (MEN 2A, MEN 2B, and familial non-MEN medullary thyroid carcinoma [FMTC]) encompass a wide range of endocrine problems, but arise from only two genes: the MEN 1 tumor suppressor gene and the RET proto-oncogene. MEN 1 is characterized by parathyroid hyperplasia, pancreaticoduodenal neuroendocrine tumors (PNTs), and pituitary adenomas. Surgery is the principal treatment modality for hyperparathyroidism and PNTs, but questions still remain concerning the timing and extent of surgery for PNTs. The MEN 2 syndromes are characterized by complete penetrance of medullary thyroid cancer. The MEN 2 syndromes differ in their variable expression of hyperparathyroidism, pheochromocytomas, and other clinical features. Genetic testing for mutations in the RET gene has revolutionized treatment by enabling thyroidectomies before significant disease occurs.

Adenoma↗
PubMed2000

Strategy for identification of novel glucose transporter family members by using internet-based genomic databases.

BACKGROUND: We previously reported that medullary thyroid carcinomas and pheochromocytomas avidly take up the glucose analog fluoro-deoxyglucose on positron emission tomography but do not express any of the known human facilitative glucose transporters. We therefore hypothesized that a novel glucose transporter is responsible for glucose uptake in these tumors. METHODS: Internet-based Expressed Sequence Tags and high throughput genome sequence databases were screened for novel sequences homologous to the known glucose transporters. Derived clones were used to screen cDNA libraries. Sequence comparison and hydropathic analysis of the putative proteins were performed. RESULTS: We identified 2 novel genes (GLUT8 and GLUT9) that are members of the facilitative glucose transporter family. The putative GLUT8 and GLUT9 proteins have 44% and 31% sequence identity to GLUT5 and GLUT3, respectively. Hydropathic analysis showed both have exofacial and transmembrane domains consistent with a hexose transporter. CONCLUSIONS: By using the Expressed Sequence Tags database, we identified novel members of the glucose transporter family. Further work will establish function and expression patterns in medullary thyroid carcinomas and pheochromocytomas. Internet-based genomic databases allow rapid screening and identification of candidate sequences of novel members of human gene families.

Amino Acid Sequence↗