Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation

Molecular Human Reproduction
Sanjay PremiSher Ali

Abstract

Mutations in the SRY gene encompassing the HMG box have been well characterized in gonadal dysgenesis, male infertility and other types of sex chromosome related anomalies (SCRA). However, no information is available on copy number status of this gene under such abnormal conditions. Employing 'Taqman Probe Assay' specific to the SRY gene, we screened 16 DNA samples from patients with SCRA and 36 samples from males exposed to high levels of natural background radiation (HNBR). Patients with SCRA showed 2-16 copies of the SRY gene of which, one, Oxen (49, XYYYY) had eight copies with sequences different from one another. Of the 36 HNBR samples, 12 had one copy whereas 24 harboured 2-8 copies of the SRY gene. A HNBR male 33F had one normal and one mutated copy of this gene. Analysis of 25 DNA samples from blood and semen of normal males showed only one copy of this gene. Despite multiple copies in affected males, fluorescence in-situ hybridization (FISH) with SRY probe detected a single signal on the Y chromosome in HNBR males suggesting its possible localized tandem duplication. Copy number status of the other Y-linked loci is envisaged to augment DNA diagnostics facilitating genetic counselling to affected patients.

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Citations

Apr 8, 2010·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Sanjay PremiSher Ali
Sep 8, 2011·Journal of Assisted Reproduction and Genetics·Sahar Moghbeli-NejadParvin Fallahi
Jun 1, 2012·Journal of Assisted Reproduction and Genetics·Hossein Mozdarani, Pegah Ghoraeian
Oct 8, 2009·Journal of Hypertension·Amy MilstedMonte E Turner
Nov 16, 2013·BMC Genomics·Jeremy W ProkopAmy Milsted
Jan 7, 2011·Systems Biology in Reproductive Medicine·Douglas T Carrell, Kenneth I Aston
Nov 17, 2009·Steroids·Daniel ElyAmy Milsted
Jun 4, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Nico Ruf, Birgit Uhlenberg
May 20, 2017·Human Fertility : Journal of the British Fertility Society·Hossein MozdaraniAnahita Mohseni-Meybodi
Dec 17, 2008·Hypertension·Monte E TurnerAmy Milsted
Jun 17, 2011·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Monte E TurnerAmy Milsted
Aug 20, 2015·Physiological Genomics·J W Prokop, C F Deschepper

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