Researchers Isolate Gene For Heart And Facial Defects

100 births.

Over the last 10 years, many researchers have examined the deleted region of chromosome 22 trying to identify the gene responsible for the anomalies. Last year Srivastava and his colleagues, who have been studying cardiac development, noticed that mutant mice with improper heart development had characteristics similar to those found with the chromosome 22 deletion. These mice lacked a small protein and also had a less-than-normal amount of an important cardiac- gene regulator, dHAND, whose job is to turn heart-specific genes on and off. But the human genes for these proteins did not lie on chromosome 22.

"We suspected that the heart-regulatory protein, dHAND, was probably somehow involved with the critical gene on chromosome 22," said Srivastava, an attending cardiologist at Children's Medical Center of Dallas. "So we looked for genes that were regulated by dHAND."

They identified several genes found in mice with normal hearts but missing in those with mutant dHAND genes. The human corresponding copy of one of those genes, UFD1, is located on chromosome 22 in the region that is missing in the 22q11 deletion.

Using molecular techniques, the researchers looked in mice to see where the gene is active. They found that UFD1 normally was turned on in mice in the tissues that are affected in children with the 22q11 deletion. Next they turned to humans and examined the deoxyribonucleic acid (DNA) from 182 chromosome 22 deletion patients to see if the UFD1 gene was missing. All 182 lacked one copy of the gene. Srivastava believes that having only half the normal amount of this gene leads to a dysregulation of the quantity of critical proteins involved in the formation of cardiac and craniofacial structures.

Because the syndrome includes a broad variety of defects and not all patients are the same, it is possible that other genes in this region are also involved in some features. The patient with a single UFD1 gene also h

Contact: Heather Stieglitz
UT Southwestern Medical Center

Page: 1 2 3

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Researchers find color sensitive atomic switch in bacteria
3. Researchers identify protein promoting vascular tumor growth
4. Researchers devise potent new tools to curb ivory poaching
5. Researchers create nanotubes that change colors, form nanocarpet and kill bacteria
6. Researchers ID chlorophyll-regulating gene
7. Researchers develop fast track way to discover how cells are regulated
8. Researchers identify distinctive signature for metastatic prostate cancer
9. Researchers report new gene test for isolated cleft lip and palate
10. Researchers discover why mutant gene causes colon cancer
11. Researchers identify the genomes controlling elements

Post Your Comments:

(Date:7/2/2020)... ... 01, 2020 , ... AltruBio Inc. http://www.altrubio.com , a ... for the treatment of steroid-refractory acute graft-versus-host disease (SR-aGVHD), at European Hematology Association ... of the Fred Hutchinson Cancer Research Center, this single-arm, open-label Phase 1 single ...
(Date:7/1/2020)... ... July 01, 2020 , ... Catalent, a global leader ... Teva-Takeda Pharmaceuticals’ packaging facility in Minakuchi, located in the Shiga prefecture of Japan. ... in Kakegawa, the new 60,000-square-foot facility will provide customers with flexible clinical supply ...
(Date:6/28/2020)... (PRWEB) , ... June 25, ... ... of enterprise software solutions for biopharmaceutical R&D, today announced that it has ... developing innovative, full-length multispecific antibodies (Multiclonics®), to support their translational and clinical ...
Breaking Biology News(10 mins):
(Date:7/22/2020)... , ... July 22, 2020 , ... Join experts from ... Lorenc, Sr. Manager Regulatory Solutions, in a one hour live webinar on ... regulating body in China for drugs and medical devices. Specifically, for medical devices, the ...
(Date:7/10/2020)... ... 08, 2020 , ... Bode Technology, a leading ... operations through its COVID-19 testing service, Bode-CARES . Bode-CARES combines high-volume clinical ... provides a turnkey solution that includes a comprehensive collection and virus-management program ...
(Date:7/7/2020)... ... 2020 , ... Bio-IT World has announced the winners of ... University of Chicago, Massachusetts General Hospital, Mission: Cure, and the Pistoia Alliance were ... outstanding examples of how technology innovations and strategic initiatives can be powerful forces ...
(Date:6/28/2020)... ... June 25, 2020 , ... With ... a vaccine or drug treatment. In an effort to better understand the cellular ... the world’s largest imaging dataset portraying therapeutic compound effects from over 1,600 approved ...
Breaking Biology Technology:
Cached News: