Research projects

Research projects

Genetic and epigenetic factors in spermatogenesis

Dr. rer. nat. Masood Abu-Halima

Analysis of miRNA patterns and their role in spermatogenesis and male fertility is a research focus of the Institute of Human Genetics at Saarland University. One of our particular interests concerns miRNA mediated mechanisms during male infertility. We are evaluating miRNA expression profiles as biomarkers for accurate diagnosis in couples with subfertility and/or infertility undergoing Assisted Reproductive Technology (ART). We identified altered miRNA expression levels in spermatozoa of males with different spermatogenic impairments, in testes of patients showing different histopathological patterns, in extracellular microvesicles (exosomes) of males with subfertility, and in the extracellular vesicles of spent culture media of women undergoing in vitro fertilization. As molecular functions of the miRNAs that are differentially expressed during spermatogenesis are little investigated so far, our research combines computational and experimental studies of miRNA-target interactions to elucidate complex downstream effects and to better understand the network of miRNA-target interactions in male infertility.

Dr. rer. nat
Abu-Halima, Masood
Post Doktorand, AG Meese / Abdul-Khaliq

Building 60, Room 1.06
Phone: +49 6841 16 26289
Fax: +49 6841 16 26185

Office hours: after prior registration by email


Gene amplifications in tumor cells: developed de novo or adapted from normal cells?

Prof. Dr. rer. nat. Ulrike Fischer

Gene amplifications are a frequent and characteristic marker of human tumors with clinical prognostic value. Gene amplifications are very frequent in human glioblastoma and recent studies document gene amplifications in tumor stem cells especially glioblastoma sphere cells. Interestingly cytogenetic marker of gene amplifications have been identified in mouse neural stem cells almost 20 years ago, but were never characterized further.
Regarding this background following questions arise:

  • Are gene amplifications detectable in mouse neural stem cells?
  • Do gene amplifications exist in human neural stem cells and is there an overlap to gene amplifications found in  glioblastoma sphere cells?
  • Is there an overlap between gene amplifications found in neural stem cells and those known to be present in  glioblastoma primary tumors?
  • Is there a modification of gene amplifications during differentiation?

Upstream-effects of gene amplifications in neural progenitor cells during differentiation
During differentiation of human and mouse neural progenitor cells genome-wide gene amplifications were documented. Some of those gene amplifications overlap with amplified chromosome regions known amplified in human glioblastoma. In contrast to gene amplifications in tumors, gene amplification process in neural progenitor cells seems to be restricted to a small time window and a discrete population of cells. There is nothing known on origin of gene amplifications. In addition it is completely unknown how normal cells circumvent strict replication control that allows replication only once per cell cycle. Since gene amplifications were detectable very short after differentiation induction (24h) we speculate that regulatory process must be fast. Regulation with miRNAs is very likely. This project should shed light on miRNA induced gene regulations immediately after differentiation induction using miRNA exprerssion array analysis.

Prof. Dr. rer. nat
Fischer, Ulrike
apl. Prof. , AG Meese

Building 60, Room 1.06
Phone: +49 6841 16 26270
Phone: +49 6841 16 26289
Fax: +49 6841 16 26185   
Office hours: after prior registration by email


MiRNAs as Biomarker

Dr. rer. nat. Nicole Ludwig

Research Focus "MiRNAs as Biomarker"

Dr. rer. nat.
Ludwig, Nicole
​​​​​​​Head of the sequencing lab "SeqLab"

Building 60, Room E.06
Phone: +49 6841 16 26269
Mobile: +49 151 22845644
Fax: +49 6841 16 26185 
Office hours: after prior registration by email


Analysis of human endogenous retrovirus encoded proteins regarding their relevance for human biology

Prof. Dr. rer. nat. Jens Mayer

Human endogenous retrovirus (HERV) sequences comprise about 8% of the human genome. HERV sequences reside in the genome already for millions of years. Several HERV loci are known to exert important biological functions. Some HERVs are evolutionarily younger and still encode former retroviral proteins, such as the so-called HERV-K(HML-2) group. Transcription of HERVs is often deregulated in human disease. Transcription of HERV-K(HML-2) is strongly upregulated in several tumor diseases, among them carcinoma in situ of, and fully manifest, germ cell tumors. Previous work has identified transcribed HERV-K(HML-2) loci encoding active proteins. It is not known whether expression of such HERV-K(HML-2) proteins contributes to tumor development. We employ specifically tailored experimental procedures to examine their relevance for human biology and disease.

Towards a thorough description of transcribed Human Endogenous Retrovirus loci — and their potential involvement — in Health and Disease
The notion of the human genome is changing. Many more genome regions than previously thought are transcribed into RNA. Identification and further characterization of those transcribed regions, the human transcriptome, will be essential to comprehend its role in health and disease. About 8% of the human genome is comprised of human endogenous retroviruses (HERVs). HERVs contribute significantly to the human transcriptome because of intrinsic promoters and transcriptional regulators. HERV transcripts are found in every human tissue and many HERV loci seem to have retained transcriptional activity. Yet, very little is known about transcriptional activity and regulation of individual HERV loci in health and disease. To better comprehend the contribution of HERVs to the human transcriptome, and their potential roles in human diseases, we will comparatively analyse transcription of HERV loci in normal and diseased human tissues and cell types. Our research will significantly contribute to filling a crucial gap in ongoing international initiatives for characterizing the human transcriptome. Furthermore, our research will also allow to asses the role of transcribed HERVs in regu­lating genes of potential clinical relevance, likely reveal clinical markers on the RNA level and identify clinically relevant genome regions.

Prof. Dr. rer. nat.
Mayer, Jens
Post Doktorand, AG Mayer

Building 60, Room D01
Phone: +49 6841 16 26627
Fax: +49 6841 16 26185
Office hours: after prior registration by email


Institute of Human Genetics

Saarland University

Gebäude 60
66421 Homburg
Phone:     +49 6841 16 23338
Fax:          +49 6841 16 26185


Genetic Counseling Center

Saarland University

Gebäude 68
66421 Homburg
Phone:     +49 6841 16 26605
Fax:          +49 6841 16 26600