Biology and Genetics of Reproduction/Molecular and Cellular Medicine (MCM)

Outreaching society contributions through translated research

Over the past years, the members of this group gave major contributions to improve health care assistance and patients wellbeing. Specifically, for the first time, we had described the mechanism for successful intracytoplasmic sperm injection and that underlies the human oocyte activation after fertilization (in collaboration with France). Further, in collaboration with France, we contributed to the first human birth after intracytoplasmic sperm injection with male gamete in different differentiation stages namely with round spermatids and immature elongated spermatids, as well as, with novel methods, explicitly with a method for total immotile sperm in intracytoplasmic sperm injection and intracytoplasmic sperm injection using electroejaculation in a man with spinal cord injury. Our collaboration with France had also resulted in the achievement of the first human embryos obtained by somatic cloning.

Additionally, members of our group actively worked to accomplish the first human births after preimplantation genetic diagnosis for Portuguese familiar amyloidotic neuropathy and to achieve for the first time important medical and scientific advances, namely: the first Portuguese human ovarian tissue transplantation, the first development of a system to support in vitro differentiation of spermatocytes into spermatids, the first determination of a new method for cryopreservation of human spermatogonial stem cells, the first description of male germ cells imprinting defects, the first description of the AZFa locus and that its deletion causes Sertoly only syndrome (with Germany), the first description of the AZFc locus and the DAZ region and that microdeletion of DAZ1 causes severe oligozoospermia with progressive evolution to azoospermia (with Germany), the first mice obtained after somatic cloning using zona-free oocytes (with Scotland), first descriptions of several human oocyte dimorphisms, the first application of stereologic methods to the study of immature human oocytes, first description of new gene mutations causing congenital absence of the vas deferens (CFTR-CBAVD), first description of new gene mutations causing human sperm total immotility, first description of new gene mutations causing primary ciliary dyskinesia and situs inversus totalis, first description of new gene mutations causing neuromuscular diseases, first determination of the molecular mechanisms elicited by different medicines (antineoplastic agents, others) over the human sperm structure and DNA integrity, first characterization of a new method for human sperm purification, first determination of new human sperm fragmentation patterns.

Highlight publications:

1. Tesarik J, Sousa M. Key elements of a highly efficient intracytoplasmic sperm injection technique: Ca2+ fluxes and oocyte cytoplasmic dislocation. Fertility and Sterility. 1995; 64(4):770-776.
   IF: 6.312; SCI: 125
   Doi: https://doi.org/10.1016/s0015-0282(16)57853-4
   URL: https://pubmed.ncbi.nlm.nih.gov/7672149/
2. Fernandes S, Huellen K, Gonçalves J, Dukal H, Zeisler J, de Meyts ER, Skakkebaek NE, Habermann B, Krause W, Sousa M, Barros A, Vogt PH. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Molecular Human Reproduction. 2002; 8(3):286-298.
   IF: 3.636; SCI: 222
   DOI: https://doi.org/10.1093/molehr/8.3.286
   URL: https://academic.oup.com/molehr/article/8/3/286/994821
3. Marques CJ, Carvalho F, Sousa M, Barros A. Genomic imprinting in disruptive spermatogenesis. Lancet. 2004; 363 (9422):1700-1702.
   IF: 60.392; SCI: 357
   DOI: https://doi.org/10.1016/S0140-6736(04)16256-9
   URL: https://pubmed.ncbi.nlm.nih.gov/15158633/
4. Sá R, Cunha M, Silva J, Luís A, Oliveira C, Teixeira da Silva J, Barros A, Sousa M. Ultrastructure of tubular smooth endoplasmic reticulum aggregates in human MII oocytes and clinical implications. Fertility and Sterility. 2011; 96 (1): 143-149, 149.e1-149.e7.
   IF: 6.312; SCI: 69
   DOI: https://doi.org/10.1016/j.fertnstert.2011.04.088
   URL: https://pubmed.ncbi.nlm.nih.gov/21621206/
5. Sá R, Cunha M, Rocha E, Barros A, Sousa M. Sequential sperm preparation technique and deoxyribonucleic acid fragmentation in relation to sperm parameters and morphological staining patterns in infertile males. Reproductive BioMedicine Online. 2015: 31(4):506-515.
   IF: 3.218; SCI: 19
   Doi: https://doi.org/10.1016/j.rbmo.2015.06.019
   URL: https://pubmed.ncbi.nlm.nih.gov/26278809/
6. R. Pereira, J. Oliveira, M. Oliveira, R. Santos, E. Oliveira, T. Barbosa, T. Santos, P. Gonçalves, L. Ferraz, Soraia Pinto, A. Barros, M. Sousa. Characterization of CCDC103 profiles: further insights in primary ciliary dyskinesia and in human reproduction. Journal of Assisted Reproduction and Genetics. 2019; 26(8);1683-1700.
   IF: 2.82; SCI: 7
   DOI: https://doi.org/10.1007/s10815-019-01509-7
   URL: https://pubmed.ncbi.nlm.nih.gov/31273583/
7. Rute Pereira, Telma Barbosa, Ângela Alves, Rosário Santos, Jorge Oliveira, Mário Sousa (2020). Unveilling the genetic etiology of primary ciliary dyskynesia: when standard genetic approach is not enough. Advanced Medical Sciences. 2020; 65(1):1-11
   IF: 2.570; SCI: 2
   DOI: https://doi.org/10.1016/j.advms.2019.10.003
   URL: https://www.sciencedirect.com/science/article/pii/S189611261930013