Staff Profile

I am a member of the Biosciences Institute and my work contributes to the Reproduction, Development and Child Health research theme.

Areas of Expertise

• Genomics technology
• Male infertility genetics
• Bioinformatics and systems biology

I am a member of the Male Infertility Genetics research group investigating the role of genetic mutations in male infertility together with Prof Joris Veltman.

Our research is focused on the genetics in male infertility, a severely understudied disorder that cannot be inherited without the use of assisted reproductive technologies pointing to a role for de novo mutations. In order to study this we work closely together with Mr. Kevin McEleny in the NHS Fertility Clinic in Newcastle and Fertility clinics in Manchester and Sheffield . We have established local, national and international collaborations, and are founding members of the International Male Infertility Genomics Consortium. With funding from the Netherlands Organization for Scientific Research, the Royal Society and the Wellcome Trust we are performing large-scale genomics studies in severe male infertility, aiming to identify the underlying causes and improve diagnostics. In addition, we use genomics to study the effect of assisted reproductive technologies on the genomic health of the offspring.

Reseach Group Members:

Joris Veltman - Principal Investigator

Miguel J. Xavier - Postdoctoral Fellow

Giles Holt - Postdoctoral fellow

Bilal Alobaidi - Senior Research technician

Joan Hughes - Research nurse

Hannah Smith - PhD student

Oguzhan Kalyon - PhD student

Shrooq Alzahrani - PhD student

Cristina Diaz - PhD student

• Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, Consortium GEMINI, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tuttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. A de novo paradigm for male infertility. Nature Communications 2022, 13(154).
• Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Human Reproduction Update 2021, dmab030.
• Trigg NA, Skerrett-Byrne DA, Xavier MJ, Zhou W, Anderson AL, Stanger SJ, Katen AL, De Iuliis GN, Dun MD, Roman SD, Eamens AL, Nixon B. Acrylamide modulates the mouse epididymal proteome to drive alterations in the sperm small non-coding RNA profile and dysregulate embryo development. Cell Rep 2021, 37(1), 109787.
• Xavier MJ, Salas-Huetos A, Oud MS, Aston KI, Veltman JA. Disease gene discovery in male infertility: Past, Present and Future. Human Genetics 2021, 140, 7-19.
• Hardy JJ, Wyrwoll MJ, Mcfadden W, Malcher A, Rotte N, Pollock NC, Munyoki S, Veroli MV, Houston BJ, Xavier MJ, Kasak L, Punab M, Laan M, Kliesch S, Schlegel P, Jaffe T, Hwang K, Vukina J, Brieño-Enríquez MA, Orwig K, Yanowitz J, Buszczak M, Veltman JA, Oud M, Nagirnaja L, Olszewska M, O'Bryan MK, Conrad DF, Kurpisz M, Tüttelmann F, Yatsenko AN, Consortium GEMINI. Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. Human Genetics 2021, 140(8), 1169-1182.
• Wyrwoll MJ, Temel SG, Nagirnaja L, Oud MS, Lopes AM, van der Heijden GW, Heald JS, Rotte N, Wistuba J, Wöste M, Ledig S, Krenz H, Smits RM, Carvalho F, Gonçalves J, Fietz D, Türkgenç B, Ergören MC, Cetinkaya M, Basar M, Kahraman S, McEleny K, Xavier MJ, Turner H, Pilatz A, Röpke A, Dugas M, Kliesch S, Neuhaus N, Aston KI, Conrad DF, Veltman JA, Friedrich C, Tüttelmann F. Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility. American Journal of Human Genetics 2020, 107(2), 342-351.
• Xavier MJ, Nixon B, Roman SD, Scott RJ, Drevet JR, Aitken RJ. Paternal impacts on development: identification of genomic regions vulnerable to oxidative DNA damage in human spermatozoa. Human Reproduction 2019, 34(10), 1876–1890.
• Mihalas BP, Camlin NJ, Xavier MJ, Peters AE, Holt JE, Sutherland JM, McLaughlin EA, Eamens AL, Nixon B. The small non-coding RNA profile of mouse oocytes is modified during aging. Aging 2019, 11(10), 2968-2997.
• Xavier MJ, Roman SD, Aitken RJ, Nixon B. Transgenerational inheritance: how impacts to the epigenetic and genetic information of parents affect offspring health. Human Reproduction Update 2019, 25(5), 518-540.
• Xavier MJ, Mitchell LA, McEwan KR, Scott RJ, Aitken RJ. Genomic integrity in the male germ line: evidence in support of the disposable soma hypothesis. Reproduction 2018, 156(3), 269-282.
• Xavier MJ, Nixon B, Roman SD, Aitken RJ. Improved methods of DNA extraction from human spermatozoa that mitigate experimentally-induced oxidative DNA damage. PLoS One 2018, 13(3), e0195003.
• Zheleznyakova GY, Voisin S, Kiselev AV, Sällman Almén M, Xavier MJ, Maretina MA, Tishchenko LI, Fredriksson R, Baranov VS, Schiöth HB. Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. Eur J Hum Genet 2013, 21, 988-93.
• Howell L, Sampson CJ, Xavier MJ, Bolukbasi E, Heck MMS, Williams MJ. A directed miniscreen for genes involved in the Drosophila anti-parasitoid immune response. Immunogenetics 2012, 64(2), 155-61.
• Xavier MJ, Williams MJ. The Rho GTPase Rac1 regulates integrin recycling in Drosophila immunosurveillance cells. PLoS One 2011, 6, e19504.