National Institutes of Health
Fact Sheet
Genes: What We Knew, Know, andHope to Learn
Yesterday
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The molecular biology revolution was in itsinfancy. The first few human genes were cloned,and DNA sequencing was just being developed.
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Efforts were just beginning to identify and mapgenes at the molecular level and to correlate geneswith diseases. Only a few human diseases, such assickle cell disease, were associated with abnormalgenes.
Today
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The entire human genome and the genomes of hundreds of other species have been sequenced,providing a valuable resource for current and futurebiomedical advances.
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We know that species ranging from microbes tohumans have similar genes and genetic pathways.By studying the genes of model organisms andcomputationally comparing the DNA sequences of different species, researchers discovered thefunctions of many human genes, including thoseassociated with certain diseases.
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The information contained in gene sequences is farmore complex than anyone imagined. For example,scientists learned that genes contain large regions of non-coding DNA that regulate gene activity. Theyalso discovered that the body can read the sameDNA sequence in different ways to producedifferent proteins.
National Institutes of Health Genes: What We Knew, Know, and Hope to Learn – 1July 2007
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Scientists now know that gene regulation is centralto an organism’s development and to a cell’s identityand function.
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Researchers are finding that the regulation of geneexpression is highly complex and depends uponspecific proteins binding to the DNA. Theseproteins, which include transcription factors andrepressors, detect the cell’s ever-changing needs andrespond by regulating the activity of certain genes.
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Scientists continue to discover new roles for RNA, aclass of molecule once thought to serve primarily asan intermediate between DNA and proteins duringprotein synthesis. They now know that RNAmolecules can regulate gene expression and catalyzeenzymatic reactions, including those that link aminoacids together to form proteins.
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As scientists have known for more than 100 years,inherited traits are passed from parent to childthrough genes. But there is a growing appreciationfor the many ways not directly tied to DNAsequence that traits can be inherited. These so-calledepigenetic processes can profoundly impact theinheritance of traits, including those related to healthand disease.
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Genetic tools—such as DNA fingerprinting—areused for a wide variety of purposes, including incriminal forensics, paternity testing, identifyinghuman remains, matching organ donors, studyingthe inheritance of specific traits in human and animalpopulations, and understanding the migrationpatterns of ancient peoples.
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Genetics-based biotechnology has grown into amultibillion-dollar industry. It has created new drugsto treat conditions such as diabetes, anemia, growthhormone deficiency, and certain cancers andinfectious diseases. It has also led to tests thatdiagnose rare diseases and predict a person’s risk formore common diseases, such as breast cancer.
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