Literature DB >> 9729118

Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25.

A Frattini1, S Faranda, E Redolfi, P Allavena, P Vezzoni.   

Abstract

The gene coding for a new member of the Immunoglobulin (Ig)-like domain-containing molecule superfamily has been identified and mapped to the human Xq25 chromosomal band. It contains 12 Ig-like domains in two clusters of 5 and 7 motifs, respectively, separated by a linker segment, followed by a transmembrane and a cytoplasmic region. The gene is conserved in mammals and is expressed in muscle, heart, brain, testis, and pancreas with transcripts of different length, suggesting that it is subjected to alternative processing. The transcript is assembled from 19 exons which are distributed along approx. 20kb; each Ig-like domain is contained in distinct exons which constitute the unit of repeated genomic duplications. Elucidation of the IGDC1 genomic structure will allow the investigation of the basis of its alternative transcription and of its possible involvement in diseases mapped to the Xq25 interval.

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Year:  1998        PMID: 9729118     DOI: 10.1016/s0378-1119(98)00253-4

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  14 in total

1.  Is IGSF1 involved in human pituitary tumor formation?

Authors:  Fabio R Faucz; Anelia D Horvath; Monalisa F Azevedo; Isaac Levy; Beata Bak; Ying Wang; Paraskevi Xekouki; Eva Szarek; Evgenia Gourgari; Allison D Manning; Rodrigo Bertollo de Alexandre; Emmanouil Saloustros; Giampaolo Trivellin; Maya Lodish; Paul Hofman; Yvonne C Anderson; Ian Holdaway; Edward Oldfield; Prashant Chittiboina; Maria Nesterova; Nienke R Biermasz; Jan M Wit; Daniel J Bernard; Constantine A Stratakis
Journal:  Endocr Relat Cancer       Date:  2014-12-19       Impact factor: 5.678

2.  TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.

Authors:  Marc-Olivier Turgeon; Tanya L Silander; Denica Doycheva; Xiao-Hui Liao; Marc Rigden; Luisina Ongaro; Xiang Zhou; Sjoerd D Joustra; Jan M Wit; Mike G Wade; Heike Heuer; Samuel Refetoff; Daniel J Bernard
Journal:  Endocrinology       Date:  2017-04-01       Impact factor: 4.736

3.  The IGSF1, Wnt5a, FGF14, and ITPR1 Gene Expression and Prognosis Hallmark of Prostate Cancer.

Authors:  Sheida Ebrahimi; Fariba Rezaei Fakhrnezhad; Sanaz Jahangiri; Mahdis Borjkhani; Rosa Behboodi; Amir Monfaredan
Journal:  Rep Biochem Mol Biol       Date:  2022-04

4.  Normal reproductive function in InhBP/p120-deficient mice.

Authors:  Daniel J Bernard; Kathleen H Burns; Bisong Haupt; Martin M Matzuk; Teresa K Woodruff
Journal:  Mol Cell Biol       Date:  2003-07       Impact factor: 4.272

5.  An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein.

Authors:  Thalia Robakis; Beata Bak; Shu-huei Lin; Daniel J Bernard; Peter Scheiffele
Journal:  J Biol Chem       Date:  2008-11-03       Impact factor: 5.157

Review 6.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

7.  A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene

Authors:  Doğa Türkkahraman; Nimet Karataş Torun; Nadide Cemre Randa
Journal:  J Clin Res Pediatr Endocrinol       Date:  2020-08-10

8.  Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Authors:  Yu Sun; Beata Bak; Nadia Schoenmakers; A S Paul van Trotsenburg; Wilma Oostdijk; Peter Voshol; Emma Cambridge; Jacqueline K White; Paul le Tissier; S Neda Mousavy Gharavy; Juan P Martinez-Barbera; Wilhelmina H Stokvis-Brantsma; Thomas Vulsma; Marlies J Kempers; Luca Persani; Irene Campi; Marco Bonomi; Paolo Beck-Peccoz; Hongdong Zhu; Timothy M E Davis; Anita C S Hokken-Koelega; Daria Gorbenko Del Blanco; Jayanti J Rangasami; Claudia A L Ruivenkamp; Jeroen F J Laros; Marjolein Kriek; Sarina G Kant; Cathy A J Bosch; Nienke R Biermasz; Natasha M Appelman-Dijkstra; Eleonora P Corssmit; Guido C J Hovens; Alberto M Pereira; Johan T den Dunnen; Michael G Wade; Martijn H Breuning; Raoul C Hennekam; Krishna Chatterjee; Mehul T Dattani; Jan M Wit; Daniel J Bernard
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

9.  IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.

Authors:  Sjoerd D Joustra; A S Paul van Trotsenburg; Yu Sun; Monique Losekoot; Daniel J Bernard; Nienke R Biermasz; Wilma Oostdijk; Jan M Wit
Journal:  Rare Dis       Date:  2013-05-02

10.  The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein.

Authors:  Ying Wang; Emilie Brûlé; Tanya Silander; Beata Bak; Sjoerd D Joustra; Daniel J Bernard
Journal:  PLoS One       Date:  2017-07-07       Impact factor: 3.240

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