ABSTRACT
The iodide-concentrating ability of the thyroid gland is essential to the production of thyroid hormone. We report the nucleotide and amino acid sequence of the mouse sodium iodide symporter (mNIS), which mediates this activity within the thyroid gland. An open reading frame of 1,857 nucleotides codes for a protein of 618 amino acids with 95% identity to rat NIS and 84% identity to human NIS. Transient expression of the mNIS cDNA in Chinese hamster ovary (CHO) cells, a nonthyroid cell line, resulted in sodium-dependent, perchlorate-sensitive iodide uptake. Western blot analysis of membrane preparations of CHO cells transiently transfected with mNIS cDNA showed a band of 90 kd when probed with an antibody directed against rat NIS. mNIS will serve as an important reagent in determining the role of NIS in experimental thyroid diseases and for monitoring the immune response to in animal models of NIS-mediated gene therapy.
Subject(s)
Symporters/genetics , Amino Acid Sequence , Animals , Base Sequence , CHO Cells , Cloning, Molecular , Cricetinae , DNA, Complementary/genetics , Gene Expression , Humans , Iodine Radioisotopes/metabolism , Mice , Molecular Sequence Data , Open Reading Frames , Rats , Recombinant Proteins/genetics , Recombinant Proteins/metabolism , Sequence Homology, Amino Acid , Species Specificity , Symporters/metabolism , TransfectionABSTRACT
PURPOSE: Penoscrotal transposition is a rare congenital abnormality of the external genitalia. We determine whether there is a genetic basis for this disorder, define the incidence of coexisting organ system anomalies, and compare the results of surgical techniques to correct transposition and hypospadias. MATERIALS AND METHODS: We report the largest, single institution series of 53 patients 1 day to 30 years old with penoscrotal transposition. RESULTS: Of the patients 13% had a family history of penoscrotal transposition. Interestingly, we identified 1 family in which inheritance occurred in an X-linked recessive manner. There were 17 (32%) patients who had abnormalities in other organ systems, with the genitourinary system in 9 affected most. A total of 79% of patients had hypospadias and 81% chordee. These anomalies were corrected with a single stage Thiersch-Duplay urethroplasty in 6 patients and complex repair with bladder or buccal mucosa, or a staged procedure in 34. Complication rates for urethroplasty were similar. Correction of the transposition included a Glenn-Anderson technique in 37 patients, Singapore rotational flaps in 7 and V-Y procedure in 6. The Glenn-Anderson repair produced the best cosmetic results and was associated with a significantly lower incidence of complications (p = 0.001). CONCLUSIONS: We identified a subgroup of patients with a family history of penoscrotal transposition. Treatment requires an awareness of the association with other organ system anomalies. The Glenn-Anderson technique was the most successful method to correct transposition. Most patients required release of chordee and complex urethroplasty for hypospadias.
Subject(s)
Penis/abnormalities , Scrotum/abnormalities , Urologic Surgical Procedures, Male , Abnormalities, Multiple , Adolescent , Adult , Child , Child, Preschool , Humans , Hypospadias/surgery , Infant , Infant, Newborn , Male , Penis/surgery , Retrospective Studies , Scrotum/surgery , Surgical Flaps , Urethra/surgery , Urogenital Abnormalities/geneticsSubject(s)
Carrier Proteins , Membrane Proteins , Neoplasms/therapy , Symporters , Animals , Breast Neoplasms/therapy , Carrier Proteins/genetics , Carrier Proteins/physiology , Gene Expression , Genetic Therapy , Humans , Mammary Glands, Animal/metabolism , Membrane Proteins/genetics , Membrane Proteins/physiology , Thyroid Gland/metabolism , Thyroid Neoplasms/radiotherapyABSTRACT
PURPOSE: The purpose of this study was to localize fibronectin on human sperm and correlate its distribution with the morphological and functional integrity of sperm. MATERIALS AND METHODS: Semen samples were collected and sperm fractionated by swim-up. Subsets of the swim-up sperm were capacitated and acrosome reacted. Damage to swim-up sperm was induced by freezing and thawing. The presence of fibronectin on the surface of sperm was determined by immunocytochemistry. RESULTS: FN immunoreactivity was variable but staining on the sperm tail was consistently highest, whereas FN immunoreactivity over the acrosome and equatorial band was consistently lowest. Capacitation and acrosome reaction did not substantially change the distribution of FN staining. However, swim-up sperm had significantly less FN immunoreactivity (4%) than sperm that were unable to swim-up (12%; p < 0.01). Sperm that were deliberately damaged by freeze/thaw showed significantly increased FN binding (p < 0.01). FN immunoreactivity was inversely correlated with sperm viability (r = -0.68), motility (r = -0.70), and morphology (r = -0.63). CONCLUSIONS: This study demonstrates that only a minority of the sperm in an ejaculate stain positive for FN and the localization of FN in positive sperm is primarily to the tail. Inferior sperm stain more frequently for FN leading to an inverse correlation between FN staining and sperm quality. Taken together, these results do not support a role for FN in sperm-egg binding. However, FN staining may provide a method for selecting the highest quality sperm for use in assisted reproduction techniques.
