HAND1

HAND1

A gene on chromosome 5q33 that encodes a DNA-binding basic helix-loop-helix (bHLH) transcription factor which plays an essential role in trophoblast differentiation and in cardiac morphogenesis; in adults, it may be required for ongoing expression of cardiac-specific genes. HAND1 dimerises with TCF3 gene products E12 and E47 and hairy-related transcription factors (HAND2, HEY1, HEY2 and HEYL), and it interacts with MDFIC. It is expressed in the heart.
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For those overrepresented among loci associated with AluYb8 methylation, there were a number of developmentally related TFBS genes (CUX1, CHX10, PAX4, PPARG, TAL1/ITF2 heterodimer, HAND1, MYOD, OCT), as well as those involved in cell processes (ACTR3B, S8), gene expression (NFE2L), lipid/sterol homeostasis (NR3C1), and immune modulation (GATA1).
The HAND1 is another transcription factor expressed in the heart, and it is characterized by an asymmetrical pattern of expression.
All exons and exonintron boundaries of NKX2-5 and HAND1 genes were analyzed by SSCP, and suspected samples were sequenced for mutation analysis.
Results: In intronic region of HAND1 gene, we identified a C>G substitution both in patients and controls.
Conclusion: Our results suggest that mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism.
HAND1 ise kalpte ekspres olan, asimetrik ekspresyon paterni ile karakterize baska bir transkripsiyon faktorudur.
Yontemler: Bu vaka-kontrol calismasi atriyal izomerizm tanisi alan veya atriyal izomerizm nedeniyle cerrahi tedavi goren 70 hasta ve HAND1 icin 80, NKX2-5 icin, 40 saglikli kontrolden olusturulmustur.
Bulgular: Kontrol ve hastalarda, HAND1 geninin intronik bolgesinde bir C>G donusumu tanimladik.
Sonuc: Sonuclarimiz, HAND1 veya NKX2-5 genlerindeki mutasyon veya dizi farkliliklarmin, atriyal izomerizm etiyolojlsi veya patogenezinde rol oynayabilecegini akla getirmektedir.
Anahtar kelimeler: Izomerizm, NKX2-5, HAND1, mutasyon
Main regulatory steps of heart development are downstream events of transcription factors like NKX25, HAND1, HAND2, SRF and GATA4 (16-18).
HAND1 (Heart and neural crest derivatives expressed 1, also known as eHand) is a basic helix-loop-helix transcription factor which is expressed at high level in the embryonic heart.