PAX3 Gene: Here's Why Some Of Us Have Joined Eyebrows

One in a family of a PAX genes involved in regulating embryonic development at the level of transcription . The PAX3 Gene is a chromosome 2 in a band q35 . It encode a DNA – Binding transcription factor that is expressed in the early embro- mutation of pax3 leads to waardenburg syndrome with a wide bridge of the nose ; pigmentary disturbance such as two different colored eye , White forlock and eyelashes and premature graying of the hair ; and some degree of nerve deafness . The syndrome is named for Dutch eye doctor named petrus Johanes waardenburg ( 1886 – 1979 ) who first noticed that people with differently colored eye often had a hearing impairment . 

PAX3 is also known as WS1 . 

  WS1 is associate chromosome dominant disorder characterised by non-progressive sensorineural hearing impairment. WS1 shows variable clinical expression and a few affected people don't manifest impairment or iris pigmentation disturbances. 

Dystopia canthorum is that the most consistent sign and is found in ninety eight of the patients. Pax3 is also involved in the development of the nervous system. 

  Waardenburg Syndrome kind one (WS1) may be a rare genetic disease, that is sometimes caused by the mutations of PAX3. PAX3 genes also are expressed in adult tissues and may act in promoting . tissue repair and regeneration. body deletion, a splice mutation associate degreed an organic compound substitution that closely correspond to the molecular changes seen within the Splotch-retarded, Splotch and Splotch-delayed mouse mutants respectively. PAX3 is that the body two locus rearranged by the 2;13translocation. PAX3 may be a transcription issue characterised by 3 extremely converved motifs within the N- terminal region. paired box deoxyribonucleic acid binding domain, Associate in Nursing intervening octapeptide of unclear perform, and a homeotic gene deoxyribonucleic acid binding domain. The C-terminal region contains a proline-, serine- and threonine-rich transactivation domination.