title: Genomic features of human limb specific enhancers.
abstract: To elucidate important cellular and molecular interactions that regulate patterning and skeletal development, vertebrate limbs served as a model organ. A growing body of evidence from detailed studies on a subset of limb regulators like the HOXD cluster or SHH, reveals the importance of enhancers in limb related developmental and disease processes. Exploiting the recent genome-wide availability of functionally confirmed enhancer dataset, this study establishes regulatory interactions for dozens of human limb developmental genes. From these data, it appears that the long-range regulatory interactions are fairly common during limb development. This observation highlights the significance of chromosomal breaks/translocations in human limb deformities. Transcriptional factor (TF) analysis predicts that the differentiation of early nascent limb-bud into future territories entail distinct TF interaction networks. Conclusively, an important motivation for annotating the human limb specific regulatory networks is to pave way for the systematic exploration of their role in disease and evolution.
authors: National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: Shahidbsb28@gmail.com.
authors: Shahid
authors: S
authors: Ali
authors: National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: bbamina120@gmail.com.
authors: Bibi
authors: B
authors: Amina
authors: National Center for Bioinformatics, Computational Biology Lab, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: amirsanila@yahoo.com.
authors: Saneela
authors: S
authors: Anwar
authors: National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: minhas61@gmail.com.
authors: Rashid
authors: R
authors: Minhas
authors: National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: naziaahmad.nm@gmail.com.
authors: Nazia
authors: N
authors: Parveen
authors: Department of Statistics, The Women University, Multan 60000, Pakistan. Electronic address: uzm_69@yahoo.com.
authors: Uzma
authors: U
authors: Nawaz
authors: National Center for Bioinformatics, Computational Biology Lab, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: ssazam@qau.edu.pk.
authors: Syed Sikandar
authors: SS
authors: Azam
authors: National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: abbasiam@qau.edu.pk.
authors: Amir Ali
authors: AA
authors: Abbasi
mesh_terms: D000818:Animals; D004742:Enhancer Elements, Genetic; D019143:Evolution, Molecular; D005121:Extremities / Q000196:embryology*; D018507:Gene Expression Regulation, Developmental; D053263:Gene Regulatory Networks; D015894:Genome, Human; D006801:Humans; D038081:Organogenesis / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D014157:Transcription Factors
keywords: Development, disease; Enhancers; Genomics; Limbs; Regulatory networks; Transcriptional factor