Navigation Links
Scientists analyze chromosomes 2 and 4

A detailed analysis of chromosomes 2 and 4 has detected the largest "gene deserts" known in the human genome and uncovered more evidence that human chromosome 2 arose from the fusion of two ancestral ape chromosomes, researchers supported by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), reported today.

In a study published in the April 7 issue of the journal Nature, a multi-institution team, led by Washington University School of Medicine in St Louis, described its analysis of the high quality, reference sequence of chromosomes 2 and 4. The sequencing work on the chromosomes was carried out as part of the Human Genome Project at Washington University; Broad Institute of MIT, Cambridge, Mass.; Stanford DNA Sequencing and Technology Development Center, Stanford, Calif.; Wellcome Trust Sanger Institute, Hinxton, England; National Yang-Ming University, Taipei, Taiwan; Genoscope, Evry, France; Baylor College of Medicine, Houston; University of Washington Multimegabase Sequencing Center, Seattle; U.S. Department of Energy (DOE) Joint Genome Institute, Walnut Creek, Calif.; and Roswell Park Cancer Institute, Buffalo, N.Y.

"This analysis is an impressive achievement that will deepen our understanding of the human genome and speed the discovery of genes related to human health and disease. In addition, these findings provide exciting new insights into the structure and evolution of mammalian genomes," said Francis S. Collins, M.D., Ph.D., director of NHGRI, which led the U.S. component of the Human Genome Project along with the DOE.

Chromosome 4 has long been of interest to the medical community because it holds the gene for Huntington's disease, polycystic kidney disease, a form of muscular dystrophy and a variety of other inherited disorders. Chromosome 2 is noteworthy for being the second largest human chromosome, trailing only chromosome 1 in size. It is also home to the gene with the longest known, protein-coding sequence ?a 280,000 base pair gene that codes for a muscle protein, called titin, which is 33,000 amino acids long.

One of the central goals of the effort to analyze the human genome is the identification of all genes, which are generally defined as stretches of DNA that code for particular proteins. The new analysis confirmed the existence of 1,346 protein-coding genes on chromosome 2 and 796 protein-coding genes on chromosome 4.

As part of their examination of chromosome 4, the researchers found what are believed to be the largest "gene deserts" yet discovered in the human genome sequence. These regions of the genome are called gene deserts because they are devoid of any protein-coding genes. However, researchers suspect such regions are important to human biology because they have been conserved throughout the evolution of mammals and birds, and work is now underway to figure out their exact functions.

Humans have 23 pairs of chromosomes ?one less pair than chimpanzees, gorillas, orangutans and other great apes. For more than two decades, researchers have thought human chromosome 2 was produced as the result of the fusion of two mid-sized ape chromosomes and a Seattle group located the fusion site in 2002.

In the latest analysis, researchers searched the chromosome's DNA sequence for the relics of the center (centromere) of the ape chromosome that was inactivated upon fusion with the other ape chromosome. They subsequently identified a 36,000 base pair stretch of DNA sequence that likely marks the precise location of the inactived centromere. That tract is characterized by a type of DNA duplication, known as alpha satellite repeats, that is a hallmark of centromeres. In addition, the tract is flanked by an unusual abundance of another type of DNA duplication, called a segmental duplication.

"These data raise the possibility of a new tool for studying genome evolution. We may be able to find other chro mosomes that have disappeared over the course of time by searching other mammals' DNA for similar patterns of duplication," said Richard K. Wilson, Ph.D., director of the Washington University School of Medicine's Genome Sequencing Center and senior author of the study.

In another intriguing finding, the researchers identified a messenger RNA (mRNA) transcript from a gene on chromosome 2 that possibly may produce a protein unique to humans and chimps. Scientists have tentative evidence that the gene may be used to make a protein in the brain and the testes. The team also identified "hypervariable" regions in which genes contain variations that may lead to the production of altered proteins unique to humans. The functions of the altered proteins are not known, and researchers emphasized that their findings still require "cautious evaluation." In October 2004, the International Human Genome Sequencing Consortium published its scientific description of the finished human genome sequence in Nature. Detailed annotations and analyses have already been published for chromosomes 5, 6, 7, 9, 10, 13, 14, 16, 19, 20, 21, 22, X and Y. Publications describing the remaining chromosomes are forthcoming.

The sequence of chromosomes 2 and 4, as well as the rest of the human genome sequence, can be accessed through the following public databases: GenBank (www.ncbi.nih.gov/Genbank) at NIH's National Center for Biotechnology Information (NCBI); the UCSC Genome Browser (www.genome.ucsc.edu) at the University of California at Santa Cruz; the Ensembl Genome Browser (www.ensembl.org) at the Wellcome Trust Sanger Institute and the EMBL-European Bioinformatics Institute; the DNA Data Bank of Japan (www.ddbj.nig.ac.jp); and EMBL-Bank (www.ebi.ac.uk/embl/index.html) at EMBL's Nucleotide Sequence Database.


'"/>

Source:NIH


Related biology news :

1. Scientists ID molecular switch in liver that triggers harmful effects of saturated and trans fats
2. Scientists Replicate Hepatitis C Virus in Laboratory
3. Scientists detect probable genetic cause of some Parkinsons disease cases
4. Scientists find missing enzyme for tuberculosis iron scavenging pathway
5. Scientists seek answers on what activates deadly anthrax spores
6. Yale Scientists Find MicroRNA Regulates Ras Cancer Gene
7. Scientists collaborate to assess health of global environment
8. Scientists decipher genome of fungus that can cause life-threatening infections
9. Scientists discover the cellular roots of graying hair
10. Scientists rid stem cell culture of key animal cells
11. Scientists develop new color-coded test for protein folding
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:12/7/2016)... , Dec. 7, 2016   Veridium , ... the appointment of new CEO James Stickland ... with decades of experience, has served in senior ... where he specialized in expanding a pipeline of ... portfolios. He most recently served as managing director ...
(Date:12/2/2016)... , December 1, 2016 ... (Fingerprint, Voice), Future Technology (Iris Recognition System), Vehicle ... - Global Forecast to 2021", published by MarketsandMarkets, ... Million in 2016, and is projected to grow ... CAGR of 14.06%.      (Logo: http://photos.prnewswire.com/prnh/20160303/792302) ...
(Date:11/29/2016)... 29, 2016   Neurotechnology , a ... recognition technologies, today released FingerCell 3.0, a ... solutions that run on low-power, low-memory microcontrollers. ... less than 128KB of memory, enabling it ... have limited on-board resources, such as: mobile ...
Breaking Biology News(10 mins):
(Date:12/8/2016)... ... December 08, 2016 , ... Opal Kelly, a leading producer ... using USB or PCI Express, announced the FOMD-ACV-A4, the company's first FPGA-on-Module for ... thin, SODIMM-style module that fits a standard 204-pin SODIMM socket for low-cost integrations ...
(Date:12/8/2016)... ... December 08, 2016 , ... KBioBox llc announced today ... demand KbioBox developed a sophisticated “3 click” gene dditing off target analysis program ... new website, https://www.kbiobox.com/ and powered by the company’s proprietary BioEngine. ...
(Date:12/8/2016)... , Dec. 8, 2016  Soligenix, Inc. (OTCQB: ... company focused on developing and commercializing products to ... medical need, announced today the long-term follow-up data ... (dusquetide), a first-in-class Innate Defense Regulator (IDR), in ... and neck cancer patients undergoing chemoradiation therapy (CRT).  ...
(Date:12/8/2016)... 8, 2016 Eutilex Co. Ltd. today announced ... $18.9M) Series A financing. This financing round included participation ... and SNU Bio Angel. This new funding brings the ... (US $27.7M) since its founding in 2015. ... development and commercialization of its immuno-oncology programs, expand its ...
Breaking Biology Technology: