Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Journal of Medical Genetics
Nicola M SolomonPaul Q Thomas

Abstract

Array comparative genomic hybridisation (array CGH) is a powerful method that detects alteration of gene copy number with greater resolution and efficiency than traditional methods. However, its ability to detect disease causing duplications in constitutional genomic DNA has not been shown. We developed an array CGH assay for X linked hypopituitarism, which is associated with duplication of Xq26-q27. We generated custom BAC/PAC arrays that spanned the 7.3 Mb critical region at Xq26.1-q27.3, and used them to search for duplications in three previously uncharacterised families with X linked hypopituitarism. Validation experiments clearly identified Xq26-q27 duplications that we had previously mapped by fluorescence in situ hybridisation. Array CGH analysis of novel XH families identified three different Xq26-q27 duplications, which together refine the critical region to a 3.9 Mb interval at Xq27.2-q27.3. Expression analysis of six orthologous mouse genes from this region revealed that the transcription factor Sox3 is expressed at 11.5 and 12.5 days after conception in the infundibulum of the developing pituitary and the presumptive hypothalamus. Array CGH is a robust and sensitive method for identifying X chromosome duplications....Continue Reading

References

Jul 1, 1994·The Journal of Pediatrics·R LindsayM Rallison
Dec 1, 1993·Human Molecular Genetics·M StevanovićP N Goodfellow
Jul 12, 1996·American Journal of Medical Genetics·B C HamelE C Mariman
Dec 31, 1997·Genes, Chromosomes & Cancer·S Solinas-ToldoP Lichter
Nov 3, 1998·Human Genetics·A M ProcterD N Cooper
Jun 14, 2000·Clinical Genetics·M T Dattani, I C Robinson
Apr 3, 2001·Annual Review of Neuroscience·J S Dasen, M G Rosenfeld
Jun 23, 2001·Mammalian Genome : Official Journal of the International Mammalian Genome Society·L J Cushman, S A Camper
Nov 1, 2001·Nature Genetics·A M SnijdersD G Albertson
Mar 30, 2002·Nature Biotechnology·Wei-Wen CaiAllan Bradley
Apr 12, 2002·Genomics·Nicola M SolomonPaul Q Thomas
Nov 13, 2002·American Journal of Human Genetics·Frédéric LaumonnierSylvain Briault
Oct 31, 2003·Molecular and Cellular Biology·Jeffrey WeissJ Larry Jameson
Feb 26, 2004·Nature Genetics·Karine RizzotiRobin Lovell-Badge

❮ Previous
Next ❯

Citations

Sep 24, 2005·European Journal of Medical Genetics·Damien SanlavilleSerge Pierrick Romana
Jun 12, 2009·Human Reproduction Update·Katrien StouffsWilly Lissens
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dorien LugtenbergHans van Bokhoven
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Daniel Pinkel, Donna G Albertson
Dec 25, 2010·The Journal of Clinical Investigation·Edwina SuttonPaul Thomas
Dec 24, 2010·PloS One·Christian VoglerAndreas Papassotiropoulos
Jan 29, 2011·Journal of Clinical Research in Pediatric Endocrinology·Primus E Mullis
Dec 6, 2011·Indian Journal of Pediatrics·Kyriaki S Alatzoglou, Mehul T Dattani
Feb 18, 2016·Fetal and Pediatric Pathology·Surasak PuvabanditsinRajeev Mehta
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·Primus-E Mullis
Jun 27, 2009·Trends in Genetics : TIG·Jozef GéczMark Corbett
Mar 10, 2009·Neurobiology of Disease·C Messaed, G A Rouleau
Feb 19, 2008·Best Practice & Research. Clinical Endocrinology & Metabolism·Ameeta Mehta, Mehul T Dattani
Mar 21, 2008·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Mary Anne PotokSally A Camper
Feb 7, 2007·Journal of Neuroendocrinology·T T ChuS C Sealfon
Nov 16, 2011·Annals of the New York Academy of Sciences·Irina V Grigorieva, Rajesh V Thakker
Mar 7, 2013·American Journal of Medical Genetics. Part a·Johan Robert HelleEirik Frengen
Jun 9, 2012·American Journal of Medical Genetics. Part a·Sharon MoalemDavid Chitayat
Apr 17, 2014·American Journal of Medical Genetics. Part a·Marijke BautersGuy Froyen
Jan 27, 2010·American Journal of Medical Genetics. Part a·Christian B RicksDaryl A Scott
May 2, 2014·American Journal of Medical Genetics. Part a·Marie-Laure VuillaumeCaroline Rooryck
Sep 13, 2005·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·D SanlavilleS P Romana
Apr 10, 2012·American Journal of Human Genetics·Herbert A LubsCharles E Schwartz
Sep 10, 2014·Journal of Endocrinological Investigation·F CastinettiT Brue
May 27, 2005·Current Opinion in Genetics & Development·Xiaoyan ZhuMichael G Rosenfeld
Jun 1, 2018·Expert Review of Molecular Diagnostics·Sau W Cheung, Weimin Bi
Sep 21, 2010·Nature Reviews. Endocrinology·Kyriaki S Alatzoglou, Mehul T Dattani
Aug 13, 2005·American Journal of Medical Genetics. Part a·Paweł StankiewiczIngo Hansmann
Aug 23, 2005·American Journal of Medical Genetics. Part a·Anne SlavotinekSteven P Hamilton
Sep 7, 2005·Human Reproduction Update·Stephanie A Pangas, Aleksandar Rajkovic
Oct 26, 2005·Human Molecular Genetics·Lisenka E L M VissersHan G Brunner
Jun 11, 2008·Journal of Pediatric Endocrinology & Metabolism : JPEM·Sharone Sheffer-BabilaPhyllis W Speiser
Jul 7, 2007·Physiological Reviews·Xiaoyan ZhuMichael G Rosenfeld
Sep 10, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Elizabeth T RosolowskyNorma Leonard

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.