FUNCTIONAL ANALYSIS OF CONSERVED GENOMIC SEQUENCES AND THEIR ROLE IN HUMAN GENETIC DISEASES
- 3 Years 2003/2006
- 300.000€ Total Award
The complete sequencing of both the human and the murine genomes represents one of the most extraordinary achievements of modern biology. This achievement allows the application of bioinformatic procedures to study more efficiently the function of genes and to discover the causes of human genetic diseases. It is well known that genes, and more in general DNA sequences, that play important biological roles tend to be very similar (“conserved”) even in organisms that are
very distant in evolution. In this project, we propose to identify and study in detail the function of a collection of unknown sequences that are highly similar between human and mouse and that are localized near of genes responsible for genetic diseases. These sequences, besides playing an important role in controlling the function of the nearby genes, may be directly responsible for human diseases.
Scientific Publications
- 2005 JOURNAL OF BIOLOGICAL CHEMISTRY
Glucocorticoid-induced tumor necrosis factor receptor is a p21(Cip1/WAF1) transcriptional target conferring resistance of keratinocytes to UV light-induced apoptosis
- 2006 GENES & DEVELOPMENT
Cross-regulation between Notch and p63 in keratinocyte commitment to differentiation
- 2005 MOLECULAR BRAIN RESEARCH
Transcriptional regulation by Barh11 and Brn-3c in organ of corti derived cell lines
- 2004 GENE EXPRESSION PATTERNS
Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed in specific domains of the developing brain
- 2003 MATRIX BIOLOGY
Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1
- 2004 HUMAN MOLECULAR GENETICS
Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis
- 2003 GENESIS
Ectodysplasin regulates pattern formation in the mammalian hair coat
- 2005 MOVEMENT DISORDERS
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
- 2006 MOLECULAR AND CELLULAR BIOLOGY
An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer
