Transcript identification on the CLN5 region on chromosome 13q22

Klockars, Tuomas; Holmberg, Ville; Savukoski, Minna; Lander, Eric S.; Peltonen, L

doi:10.1007/s004390051063

Cited by 3 publications

(5 citation statements)

References 9 publications

(11 reference statements)

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“…The Finnish group was the first group who used positional cloning and screening of human fetal brain cDNA library to study CLN5. Their study revealed that CLN5 cDNA is 4.1 kb long, consisting of four exons with an open reading frame of 1380 bp and a coding sequence of 1221 bp [ 16 , 17 ]. Other studies from the 1990s reported four exons that span a 13 kb region of genomic DNA.…”

Section: Cln5 Biologymentioning

confidence: 99%

“…Using traditional and computational methods for transcript identification, Klockars et al . [ 17 ] found that the CLN5 transcript is flanked by four more genes, namely cDNA761, Ribosomal protein L7 pseudogene, RNAse helicase A/nuclear DNA helicase II / leukophysin pseudogene and PAM. However, the recent RefSeq database shows the locations of these four genes to be on different chromosomes.…”

Section: Cln5 Biologymentioning

confidence: 99%

“…The four respective methionines are at positions 1, 30, 50 and 62 aa, which when translated would produce polypeptides of 407, 378, 358 and 346 aa. Based on the consensus analysis, the first ATG was considered the site of translation initiation resulting in a predicted polypeptide of 407 aa weighing ~ 46 kDa [ 16 , 17 , 30 , 31 ]. A recent update to the RefSeq sequence omitted the initial 49 aa, resulting in a 358 aa protein, corresponding to the use of the third ATG.…”

Section: Cln5 Biologymentioning

confidence: 99%

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A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis

Basak

Wicky

McDonald

et al. 2021

Cell. Mol. Life Sci.

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Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is an incurable childhood brain disease. The thirteen forms of NCL are caused by mutations in thirteen CLN genes. Mutations in one CLN gene, CLN5, cause variant late-infantile NCL, with an age of onset between 4 and 7 years. The CLN5 protein is ubiquitously expressed in the majority of tissues studied and in the brain, CLN5 shows both neuronal and glial cell expression. Mutations in CLN5 are associated with the accumulation of autofluorescent storage material in lysosomes, the recycling units of the cell, in the brain and peripheral tissues. CLN5 resides in the lysosome and its function is still elusive. Initial studies suggested CLN5 was a transmembrane protein, which was later revealed to be processed into a soluble form. Multiple glycosylation sites have been reported, which may dictate its localisation and function. CLN5 interacts with several CLN proteins, and other lysosomal proteins, making it an important candidate to understand lysosomal biology. The existing knowledge on CLN5 biology stems from studies using several model organisms, including mice, sheep, cattle, dogs, social amoeba and cell cultures. Each model organism has its advantages and limitations, making it crucial to adopt a combinatorial approach, using both human cells and model organisms, to understand CLN5 pathologies and design drug therapies. In this comprehensive review, we have summarised and critiqued existing literature on CLN5 and have discussed the missing pieces of the puzzle that need to be addressed to develop an efficient therapy for CLN5 Batten disease.

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Section: Cln5 Biologymentioning

confidence: 99%

Section: Cln5 Biologymentioning

confidence: 99%

Section: Cln5 Biologymentioning

confidence: 99%

See 1 more Smart Citation

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis

Basak

Wicky

McDonald

et al. 2021

Cell. Mol. Life Sci.

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“…However, three chromosomal regions were identified to contain CNVs in endometriotic lesions themselves—deletions in 1p36, 7p22.1, and 22q12 (Gogusev, 1999). Although very challenging in endometriosis because it has characteristics of a complex disease, linkage analysis has been done.…”

Section: Eugonadismmentioning

confidence: 99%

The genetic basis of female reproductive disorders: Etiology and clinical testing

Layman

2013

Molecular and Cellular Endocrinology

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With the advent of improved molecular biology techniques, the genetic basis of an increasing number of reproductive disorders has been elucidated. Mutations in at least 20 genes cause hypogonadotropic hypogonadism including Kallmann syndrome in about 35–40% of patients. The two most commonly involved genes are FGFR1 and CHD7. When combined pituitary hormone deficiency includes hypogonadotropic hypogonadism as a feature, PROP1 mutations are the most common of the six genes involved. For hypergonadotropic hypogonadism, mutations in 14 genes cause gonadal failure in 15% of affected females, most commonly in FMR1. In eugonadal disorders, activating FSHR mutations have been identified for spontaneous ovarian hyperstimulation syndrome; and WNT4 mutations have been described in mullerian aplasia. For other eugonadal disorders, such as endometriosis, polycystic ovary syndrome, and leiomyomata, specific germline gene mutations have not been identified, but some chromosomal regions are associated with the corresponding phenotype. Practical genetic testing is possible to perform in both hypogonadotropic and hypergonadotropic hypogonadism and spontaneous ovarian hyperstimulation syndrome. However, clinical testing for endometriosis, polycystic ovary syndrome, and leiomyomata is not currently practical for the clinician.

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“…Mutations in CLN5 result in Finnish variant late infantile NCL (Fin-vLINCL) [97, 107, 108]; recently, mutations in CLN5 have been found outside Finnish populations [97, 102, 106, 109, 110]. Pathogenic mutations seem to cause retention of CLN5 in the ER/Golgi, in immunocytochemistry of cells overexpressing mutated CLN5 [98, 99, 102].…”

Section: Ncl-associated Soluble Proteins In the Lysosomementioning

confidence: 99%

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function

Getty

Pearce

2010

Cell. Mol. Life Sci.

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Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are characterized by lysosomal accumulation of autofluorescent storage material, and result in a disease that causes degeneration of the central nervous system (CNS). Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. Understanding the localization and network of interactions for these proteins can offer clues as to the function of the NCL proteins and also the pathways that will be disrupted in their absence. Here, we present a review of the current understanding of the localization, interactions, and function of the proteins associated with NCL.

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Transcript identification on the CLN5 region on chromosome 13q22

Cited by 3 publications

References 9 publications

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis

The genetic basis of female reproductive disorders: Etiology and clinical testing

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function

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