Transcriptional Differences in Identical Twins With Different Reproductive Capacities: A Case Report

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2023 Jul 26

PMID 37492809

Authors

Katherine Campbell

Alexandra Dullea

Christian Ramsoomair

Kyle Schuppe

Armin Ghomeshi

Kajal Khodamoradi

Himanshu Arora

Carolina Jorgez

Ranjith Ramasamy

Affiliations

Soon will be listed here.

Abstract

Disorders of sperm production can be classified quantitatively as oligospermia (low sperm count) or azoospermia (no sperm during ejaculation). Numerous genes have been implicated in spermatogenesis. We describe a case of two identical twins who presented with different reproductive capabilities. One brother was infertile due to azoospermia, and the other, although oligospermic, previously naturally fathered a child. They were found to have differential gene expression based on RNA sequencing analysis. In the man with azoospermia, we found elevated and gene expressions when compared with his brother, suggesting that the increased RNA expression of these genes could influence sperm production.

References

Bhatlekar S, Fields J, Boman B . Role of HOX Genes in Stem Cell Differentiation and Cancer. Stem Cells Int. 2018; 2018:3569493. PMC: 6081605. DOI: 10.1155/2018/3569493. View

Gunes S, Esteves S . Role of genetics and epigenetics in male infertility. Andrologia. 2020; 53(1):e13586. DOI: 10.1111/and.13586. View

Jorgez C, Seth A, Wilken N, Bournat J, Chen C, Lamb D . E2F1 regulates testicular descent and controls spermatogenesis by influencing WNT4 signaling. Development. 2021; 148(1). PMC: 7823160. DOI: 10.1242/dev.191189. View

Brotto D, Siena A, Barros I, Carvalho S, Muys B, Goedert L . Contributions of HOX genes to cancer hallmarks: Enrichment pathway analysis and review. Tumour Biol. 2020; 42(5):1010428320918050. DOI: 10.1177/1010428320918050. View

Agger K, Santoni-Rugiu E, Holmberg C, Karlstrom O, Helin K . Conditional E2F1 activation in transgenic mice causes testicular atrophy and dysplasia mimicking human CIS. Oncogene. 2004; 24(5):780-9. DOI: 10.1038/sj.onc.1208248. View

Jorgez C, Wilken N, Addai J, Newberg J, Vangapandu H, Pastuszak A . Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia. Fertil Steril. 2014; 103(1):44-52.e1. PMC: 4282601. DOI: 10.1016/j.fertnstert.2014.09.021. View

Wosnitzer M, Goldstein M, Hardy M . Review of Azoospermia. Spermatogenesis. 2014; 4:e28218. PMC: 4124057. DOI: 10.4161/spmg.28218. View

Sahota J, Sharma B, Guleria K, Sambyal V . Candidate genes for infertility: an in-silico study based on cytogenetic analysis. BMC Med Genomics. 2022; 15(1):170. PMC: 9347124. DOI: 10.1186/s12920-022-01320-x. View

Bondos S, Mendes G, Jons A . Context-dependent HOX transcription factor function in health and disease. Prog Mol Biol Transl Sci. 2020; 174:225-262. DOI: 10.1016/bs.pmbts.2020.05.003. View

10.

Johnson D . The paradox of E2F1: oncogene and tumor suppressor gene. Mol Carcinog. 2000; 27(3):151-7. DOI: 10.1002/(sici)1098-2744(200003)27:3<151::aid-mc1>3.0.co;2-c. View

11.

Krausz C, Riera-Escamilla A . Genetics of male infertility. Nat Rev Urol. 2018; 15(6):369-384. DOI: 10.1038/s41585-018-0003-3. View

12.

Vander Borght M, Wyns C . Fertility and infertility: Definition and epidemiology. Clin Biochem. 2018; 62:2-10. DOI: 10.1016/j.clinbiochem.2018.03.012. View

13.

Hwang K, Yatsenko A, Jorgez C, Mukherjee S, Nalam R, Matzuk M . Mendelian genetics of male infertility. Ann N Y Acad Sci. 2011; 1214:E1-E17. PMC: 3654696. DOI: 10.1111/j.1749-6632.2010.05917.x. View

14.

Rotgers E, Nurmio M, Pietila E, Cisneros-Montalvo S, Toppari J . E2F1 controls germ cell apoptosis during the first wave of spermatogenesis. Andrology. 2015; 3(5):1000-14. PMC: 5042044. DOI: 10.1111/andr.12090. View

15.

Vychytilova-Faltejskova P, Merhautova J, Machackova T, Gutierrez-Garcia I, Garcia-Solano J, Radova L . MiR-215-5p is a tumor suppressor in colorectal cancer targeting EGFR ligand epiregulin and its transcriptional inducer HOXB9. Oncogenesis. 2017; 6(11):399. PMC: 5868056. DOI: 10.1038/s41389-017-0006-6. View

16.

Linn E, Ghanem L, Bhakta H, Greer C, Avella M . Genes Regulating Spermatogenesis and Sperm Function Associated With Rare Disorders. Front Cell Dev Biol. 2021; 9:634536. PMC: 7921155. DOI: 10.3389/fcell.2021.634536. View

17.

Rocca M, Di Nisio A, Marchiori A, Ghezzi M, Opocher G, Foresta C . Copy number variations of : a new genetic risk factor for testicular cancer. Endocr Relat Cancer. 2017; 24(3):119-125. DOI: 10.1530/ERC-16-0514. View