Ipatimup

RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH

Susana Seixas

Name: Susana Seixas

E-mail: sseixas@ipatimup.pt

Susana Seixas

Member of

Consultant of Ipatimup Diagnostics

Junior Researcher of Genetic Diversity

Short CV

Susana Seixas is currently a researcher at Ipatimup in the group Proteolysis and Diseases. From the Faculty of Sciences of the University of Porto (Portugal) Susana received a degree in Biological Sciences in 1995, a Master in Applied Human Genetics in 1998 and a PhD in Biology in 2003. Susana was a postdoctoral fellow at Ipatimup and at the Department of Human Genetics from the University Chicago (USA) until 2008, when she was contracted as researcher under the program for scientific employment “Ciência2007”. The activities of Susana include the collaboration with the Ipatimup Diagnostics Unit, where she is in charge of the genotyping service for the diagnostic of alpha-1-antitrypsin deficiency and the supervision of two PhD students (Zélia Ferreira and Patricia Marques) and the co-supervison of a postdoctoral fellow (Sílvia Pereira). As principal investigator Susana got two national grants, the first in 2007 and the second in 2012 and she participated as member of the research team in five other national grants. Recently, Susana was awarded with the Takeda Portugal 2012 prize from the Portuguese Society of Pneumology for the best work published in an international scientific journal.

Highlights

The main goal of Susana Seixas research is to increase the understanding of the evolutionary history of proteolysis-related genes, having a particular focus on genes with functions in reproductive and innate immunity and their potential implications in the current patterns of health and disease. Her studies centered in the analysis of the sequence variation of serine protease inhibitors genes like SERPINA2, SERPINB11 and WFDC8 contributed to the identification of potential targets of natural selection and to the perception of the importance of proteolysis in human adaptations. Susana is also interested in the impact of proteolysis variability in disease susceptibility, more precisely in male infertility and in lung pathologies such as emphysema associated to alpha-1-antitripsin deficiency. Other general scientific interests include the understanding of genome organization and the evolution of gene families and their impact in protein interactions networks.

Supervisor of

Joana Gonçalves, Fellow

Patrícia Marques, Post Doc

PI (running)

Projecto de Estudo Prospectivo - Défice de Alfa 1 Antitripsina

PI (closed)

"Evaluating the role of proteolysis in the male reproductive system through the study of KLK (19q13.4) and WFDC (20q.13) gene clusters"

"Looking for evidences of human adaptation in the proteolysis universe: the case-study of serine protease inhibitors"

First Author

1. Marques PI, Fonseca F, Sousa T, Santos P, Camilo V, Ferreira Z, Quesada V, Seixas S

Adaptive Evolution Favoring KLK4 Downregulation in East Asians. Molecular biology and evolution 33: 93-108, 2016. [Article]

doi: 10.1093/molbev/msv199 PMID: 26420451.

6.2

2. Seixas S

The Human SERPIN repertoire and the evolution of 14q32.1 and 18q21.3 gene clusters (book chapter) In: The Serpin Family. Proteins with multiple functions in Health and Disease The Serpin Family. Proteins with multiple functions in Health and Disease 1-14, 2015. []

doi: 10.1007/978-3-319-22711-5_1.

3. Seixas S, Suriano G, Carvalho F, Seruca R, Rocha J, Di Rienzo A

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Molecular biology and evolution 24: 587-98, 2007. [Article]

doi: 10.1093/molbev/msl187 PMID: 17135331.

6.4

4. Seixas S, Ferrand N, Rocha J

Microsatellite variation and evolution of the human Duffy blood group polymorphism. Molecular biology and evolution 19: 1802-6, 2002. [Letter]

PMID: 12270907.

5.3

5. Seixas S, Mendonça C, Costa F, Rocha J

alpha1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G-->A transition in position +1 of intron IC affecting normal mRNA splicing. Clinical genetics 62: 175-80, 2002. [Article]

PMID: 12220457.

2.2

6. Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Human genetics 108: 20-30, 2001. [Article]

PMID: 11214903.

3.2

7. Seixas S, Lopes AI, Rocha J, Silva L, Salgueiro C, Salazar-de-Sousa J, Batista A

Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation. Journal of medical genetics 38: 472-4, 2001. [Letter]

PMID: 11474657.

5.1

8. Seixas S, Garcia O, Amorim A, Rocha J

A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country. Human mutation 15: 121-2, 2000. []

doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U PMID: 10612848.

3.7

9. Seixas S, Trovoada MJ, Rocha J

Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and São Tomé e Príncipe (Gulf of Guinea): linkage disequilibrium evidence that APOE*4 is the ancestral APOE allele. Human biology; an international record of research 71: 1001-8, 1999. [Article]

PMID: 10592690.

0.8

Senior Author

1. Monteiro C, Marques PI, Cavadas B, Damião I, Almeida V, Barros N, Barros A, Carvalho F, Gomes S, Seixas S

Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria. American journal of reproductive immunology (New York, N.Y. : 1989) 79: e12838, 2018. [Article]

doi: 10.1111/aji.12838 PMID: 29500854.

2.7 (*)

2. Marques PI, Fonseca F, Carvalho AS, Puente DA, Damião I, Almeida V, Barros N, Barros A, Carvalho F, Azkargorta M, Elortza F, Osório H, Matthiesen R, Quesada V, Seixas S

Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes. Human reproduction (Oxford, England) 31: 2881-2891, 2016. [Article]

doi: 10.1093/humrep/dew267 PMID: 27827323.

5.0

3. Gomes S, Marques PI, Matthiesen R, Seixas S

Adaptive evolution and divergence of SERPINB3: a young duplicate in great Apes. PloS one 9: e104935, 2014. [Article]

doi: 10.1371/journal.pone.0104935 PMID: 25133778.

3.2

4. Marques PI, Ferreira Z, Martins M, Figueiredo J, Silva DI, Castro P, Morales-Hojas R, Simões-Correia J, Seixas S

SERPINA2 Is a Novel Gene with a Divergent Function from SERPINA1. PloS one 8: e66889, 2013. [Article]

doi: 10.1371/journal.pone.0066889 PMID: 23826168.

3.5

5. Ferreira Z, Hurle B, Andrés AM, Kretzschmar WW, Mullikin JC, Cherukuri PF, Cruz P, Gonder MK, Stone AC, Tishkoff S, Swanson WJ, , Green ED, Clark AG, Seixas S

Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity. Genome biology and evolution 5: 2512-23, 2013. [Article]

doi: 10.1093/gbe/evt198 PMID: 24356879.

4.5

6. Marques PI, Bernardino R, Fernandes T, , Green ED, Hurle B, Quesada V, Seixas S

Birth-and-death of KLK3 and KLK2 in primates: evolution driven by reproductive biology. Genome biology and evolution 4: 1331-8, 2012. [Article]

doi: 10.1093/gbe/evs111 PMID: 23204305.

4.8

7. Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S

Severe a-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. Clinical genetics 81: 462-9, 2012. [Article]

doi: 10.1111/j.1399-0004.2011.01670.x PMID: 21457231.

3.9

8. Ferreira Z, Hurle B, Rocha J, Seixas S