Genetic variants for chick biology research: from breeds to mutants

Delany, Mary E.

doi:10.1016/j.mod.2004.05.018

Cited by 30 publications

(15 citation statements)

References 33 publications

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“…Genetic and genomic resources such as specialized lines, linkage maps, BAC-physical maps, EST collections (Crittenden et al 1993;Pisenti et al 1999;Groenen et al 2000;Lee et al 2003;Delany 2004;Hubbard et al 2005) and the draft sequence (ICGSC 2004) provide the tools essential for further advances using this experimental model system. The chicken system offers comparative biology versatility and several specific attributes as a model for human aging (Swanberg and Delany 2006) not the least of which is its unique telomere biology similarities with human (Forsyth et al 2002;.…”

Section: Discussionmentioning

confidence: 99%

Telomerase gene expression in the chicken: Telomerase RNA (TR) and reverse transcriptase (TERT) transcript profiles are tissue-specific and correlate with telomerase activity

O'Hare

Delany

2005

AGE

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Telomerase is the specialized enzyme which replicates the telomeres, thus maintaining the integrity of the chromosome ends; in absence of enzyme activity telomere lengths decrease, ultimately impacting genome stability. In this study, we examined the mRNA expression of both enzyme components, the RNA template (TR) and catalytic subunit (TERT) during growth and development of the chicken to better understand mechanisms which regulate telomerase activity in vertebrates. Quantitative real-time PCR was used to establish transcript profiles for six ages ranging from pre-blastula to two-year old adults. Organ-specific profiles were established for brain, heart, liver, intestine, spleen and gonad. The pre-blastula and gastrula stages exhibited very high transcript levels of both telomerase components; organs from the embryos and adult showed transcript levels either similar or down-regulated relative to the early differentiation embryo stages. Organs which are known to become negative for telomerase activity between the embryo and adult stages (brain, heart, liver) exhibited down-regulation of TR and either no change or an increase in TERT transcripts. Whereas, organs which maintain high telomerase activity even in adults (intestine, spleen, gonad), generally exhibited up-regulation of transcripts for both components. However, there were some tissue-specific differences between telomerase-positive tissues. These results show that TERT and TR transcript levels correlate with telomerase activity profiles and suggest that TR is the rate-limiting component in telomerase-negative tissues.

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Section: Discussionmentioning

confidence: 99%

Telomerase gene expression in the chicken: Telomerase RNA (TR) and reverse transcriptase (TERT) transcript profiles are tissue-specific and correlate with telomerase activity

O'Hare

Delany

2005

AGE

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“…It should be noted that the number of facilities maintaining these valuable resources are few in number. Currently, only nine academic institutions actively maintain established genetic lines in the United States (Delany, 2004), while in Europe four additional institutions, The Roslin Institute, Pirbright Institute, Uppsala University and INRA, maintain lines of developmental significance. Here we highlight three mutant lines with craniofacial phenotypes similar to that of ta 2 and ta 3 ; diplopida-4 (Taylor and Gunns, 1947) , coloboma (Abbott et al, 1970) and cleft primary palate (Abbott and MacCabe, 1966).…”

Section: Introductionmentioning

confidence: 99%

Utilizing the chicken as an animal model for human craniofacial ciliopathies

Schock

Chang

Youngworth

et al. 2016

Developmental Biology

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The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size, accessibility, and amenability for classical bead implantation and transplant experiments. Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. Two of the most well known lines, talpid2 (ta2) and talpid3 (ta3), represent the first spontaneous mutants to have the causative genes identified. Despite having distinct genetic causes, both mutants have recently been identified as ciliopathic. Excitingly, both of these mutants have been classified as models for human craniofacial ciliopathies: Oral-facial-digital syndrome (ta2) and Joubert syndrome (ta3). Herein, we review and compare these two models of craniofacial disease and highlight what they have revealed about the molecular and cellular etiology of ciliopathies. Furthermore, we outline how applying classical avian experiments and new technological advances (transgenics and genome editing) with naturally occurring avian mutants can add a tremendous amount to what we currently know about craniofacial ciliopathies.

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“…The University of California-Davis (UCD) maintains a series of developmental mutant chicken lines well-studied for phenotype and mode of inheritance [1,5,6,7]. The mutations are single-gene recessives causing craniofacial, limb, skeletal, muscular and/or integument abnormalities having homology with developmental syndromes in human.…”

Section: Introductionmentioning

confidence: 99%

Case Study of Sequence Capture Enrichment Technology: Identification of Variation Underpinning Developmental Syndromes in an Amniote Model

Robb

Delany

2012

Genes

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Chicken developmental mutants are valuable for discovering sequences and pathways controlling amniote development. Herein we applied the advanced technologies of targeted sequence genomic capture enrichment and next-generation sequencing to discover the causative element for three inherited mutations affecting craniofacial, limb and/or organ development. Since the mutations (coloboma, diplopodia-1 and wingless-2) were bred into a congenic line series and previously mapped to different chromosomes, each targeted mutant causative region could be compared to that of the other two congenic partners, thereby providing internal controls on a single array. Of the ~73 million 50-bp sequence reads, ~76% were specific to the enriched targeted regions with an average target coverage of 132-fold. Analysis of the three targeted regions (2.06 Mb combined) identified line-specific single nucleotide polymorphism (SNPs) and micro (1–3 nt) indels. Sequence content for regions indicated as gaps in the reference genome was generated, thus contributing to its refinement. Additionally, Mauve alignments were constructed and indicated putative chromosomal rearrangements. This is the first report of targeted capture array technology in an avian species, the chicken, an important vertebrate model; the work highlights the utility of employing advanced technologies in an organism with only a “draft stage” reference genome sequence.

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Genetic variants for chick biology research: from breeds to mutants

Cited by 30 publications

References 33 publications

Telomerase gene expression in the chicken: Telomerase RNA (TR) and reverse transcriptase (TERT) transcript profiles are tissue-specific and correlate with telomerase activity

Telomerase gene expression in the chicken: Telomerase RNA (TR) and reverse transcriptase (TERT) transcript profiles are tissue-specific and correlate with telomerase activity

Utilizing the chicken as an animal model for human craniofacial ciliopathies

Case Study of Sequence Capture Enrichment Technology: Identification of Variation Underpinning Developmental Syndromes in an Amniote Model

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